- PMID
- Gene Name
- Molecular Event
- Function in UC
- 1468858
- G6PD
- downregulation
- Pathogenesis
- Method
- semi-quantitative fluorometric assay
- Summary
- A significant association between G-6-PD deficiency and Neonatal jaundice was observed in male but not female neonates.
- Association between glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice: interaction with multiple risk factors. International journal of epidemiology, 1992 Oct [Go to PubMed]
- This nonconcurrent cohort study was carried out to evaluate the association of neonatal jaundice with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and its interactions with other risk factors. The G-6-PD enzyme activity of 12,379 neonates was screened by a semi-quantitative fluorometric assay and double-checked by a quantitative method to identify a G-6-PD deficient cohort of 333 neonates. Matched with these on birth date, sex and delivery hospital were a G-6-PD normal cohort of 653 neonates. Neonatal jaundice was defined by a peak serum bilirubin (PSB) level of > or = 15 mg/dl. A significant association between G-6-PD deficiency and neonatal jaundice was observed in male but not female neonates. There was an inverse dose-response relation between G-6-PD activity and neonatal jaundice among male neonates. Both hypoxia/asphyxia and maternal hepatitis B surface antigen (HBsAg) carrier status were associated with an increased risk of neonatal jaundice among G-6-PD deficient but not G-6-PD normal male neonates. Based on multiple regression analyses, an additively synergistic effect on PSB level and severe jaundice (PSB > or = 20 mg/dl) was observed for G-6-PD deficiency and maternal HBsAg carrier status.
Researchers compared data on 333 newborns with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency at 5 public and 5 private hospitals in Taiwan with data on 653 birth date, sex, and delivery hospital matched newborns to examine the peak serum bilirubin (PSB) level and incidence of neonatal jaundice of both G-6-PD deficient and G-6-PD normal newborns. They also wanted to determine whether an association exists between G-6-PD activity level and incidence of neonatal jaundice and associations between G-6-PD deficiency and other likely risk factors of neonatal jaundice. A significant association between G-6-PD deficiency and neonatal jaundice existed among male neonates but not female neonates. Male neonates had a considerably higher incidence of neonatal jaundice than did female neonates (11.6% vs. 6.2%). There was a significant inverse dose-response relationship between G-6-PD activity and neonatal jaundice among the male neonates (p.01). For example, the relative risk was 1.78 for 20.1-29.9 relative intensty, 2.01 for 15.1-20, 2.61 for 10.1-15, and 4.07 for 10. Maternal hepatitis B surface antigen (HBsAg) carrier status and hypoxia/asphyxia significantly increased the risk for G-6-PD deficiency in male neonates (p.05). The multiple regression analysis indicated a significant effect of G-6-PD deficiency on the PSB level and the incidence rate of severe neonatal jaundice. There was a similar significant interaction between G-6-PD deficiency and maternal HBsAg carrier status. - 1812331
- G6PD
- downregulation
- inactive stage
- Method
- NA
- Summary
- glucose-6-phosphate dehydrogenase (G6PD) deficiency remain as the common aetiological factors of Neonatal jaundice.
- Neonatal jaundice. A second 4-year experience in Toa Payoh Hospital (1986-1989). The Journal of the Singapore Paediatric Society, 1991 [Go to PubMed]
- A 4-year experience of neonatal jaundice, from 1982-1985, in Toa Payoh Hospital, Singapore was reported previously. The second 4-year experience (1986-1989) of neonatal jaundice is reported. The Department had a more liberal policy in the management of milder cases of neonatal jaundice since 1986, after acquisition of more phototherapy units. It is the purpose of this paper to examine the change in pattern of neonatal jaundice in the same department over these 2 study periods and a comparison is made. The reported frequency of neonatal jaundice in these 2 study periods rose from 7.9% to 10% of all babies in this hospital. Babies who have some form of treatment such as phototherapy are considered as cases of neonatal jaundice. However, the incidence of hyperbilirubinaemia (defined as serum bilirubin level of 255 umol/L or 15 mg/dl or greater) fell from 3.23% to 2.11% of all livebirths in these 2 study periods. ABO Incompatibility, glucose-6-phosphate dehydrogenase (G6PD) deficiency and low birth weights (LBW)remain as the common aetiological factors of neonatal jaundice. The indications of exchange blood transfusions have changed considerably. There were less exchange blood transfusions for severe neonatal jaundice due to G6PD deficiency. However, more LBW babies underwent exchange blood transfusion. No case of kernicterus was reported for more than 10 years.
- 2633878
- G6PD
- downregulation
- Diagnosis; inactive stage; Pathogenesis
- Method
- G6PD deficiency
- Summary
- This update describes developments in the methodology for characterizing G6PD deficiency, recent knowledge of the factors that can cause haemolysis, community approaches for prevention of haemolytic crises and Neonatal jaundice, and the implications of recent advances at the DNA level.
- Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group. Bulletin of the World Health Organization, 1989 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzyme disorder of human beings and a globally important cause of neonatal jaundice, which can lead to kernicterus and death or spastic cerebral palsy. It can also lead to life-threatening haemolytic crises in childhood and at later ages, by interacting with specific drugs and with fava beans in the diet. The complications of G6PD deficiency can largely be prevented by education and information, and neonatal jaundice can be successfully treated by phototherapy, a cheap and simple approach suitable for use in primary health care. This update describes developments in the methodology for characterizing G6PD deficiency, recent knowledge of the factors that can cause haemolysis, community approaches for prevention of haemolytic crises and neonatal jaundice, and the implications of recent advances at the DNA level.
- 12680285
- G6PD
- downregulation
- Diagnosis; inactive stage; Pathogenesis
- Method
- NA
- Summary
- It was not possible to assess the influence of abnormal alleles of UGT1A1 in the severity of the Neonatal hyperbilirubinemia.
- [Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome]. Acta médica portuguesa, [Go to PubMed]
- The aim of this work was to evaluate the influence of abnormal UDP-glucoronosyltransferase-1 (UGT1A1) gene variant, on the incidence and severity of neonatal hyperbilirubinemia, in glucose-6-phosphate dehydrogenase (G6PD) deficient newborns. The A(TA)nTAA region in the promoter of the UGT1A1 gene was analysed in 20 children with G6PD deficiency. Fourteen of these children had the African type variant (G6PDA-) and 6 had different variants (G6PDNara, G6PDGuadalajara, G6PDDurham, G6PDTomah, G6PDAveiro e G6PDNashville) related to chronic nonspherocytic haemolytic anaemia (CNSHA). The existence of a positive history of neonatal hyperbilirubinemia, as well as its severity was registered. The incidence of neonatal hyperbilirubinemia was increased in this group of children (90%) and was not associated with abnormal alleles of the UGT1A1 gene. It was not possible to assess the influence of abnormal alleles in the severity of the neonatal hyperbilirubinemia. However, these abnormal alleles did not account for the seveity of jaundice in children who presented variants related to CNSHA, since 5 were treated with an exchange transfusion and none presented abnormal alleles.
- 20707209
- G6PD
- downregulation
- Unclassified
- Method
- G6PD deficiency
- Summary
- Coptis is one of the important factors that affect the occurrence of Neonatal jaundice, and it has a protective effect in preventing Neonatal jaundice from occurrence.
- [Research of coptis effect on incidence of neonatal jaundice based on Cox model]. Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazh, 2010 May [Go to PubMed]
- To learn the effects of coptis in treating neonatal jaundice and to find the index that guides the clinical administration of the medicine.
Clinical data of 412 cases of neonatal jaundice were studied retrospectively, and univariate and multivariate analysis were made to the factors affecting the incidence according to the Cox model which led to the establishment of the predictive equation. According to the regression coefficients, the relative risk, wald value, the coptis effects were evaluated on the incidence of neonatal jaundice.
Single-factor Cox model analysis shows that there are five main factors affecting the incidence of neonatal jaundice, Multivariate Cox model analysis indicates that the five main factors are also independent factors that affect the incidence, the roles of which, ranking from minor to major are, in turn, age, applied coptis, ethnic, G6PD deficiency and cesarean section. Among them, the regression coefficient is -0.259, relative risk 0.772, wald value 6.832. It sugguests that coptis may reduce the incidence of neonatal jaundice, and that it is a protective factor. The prediction equation, by regression coefficients, which has been used to establish the incidence of neonatal jaundice, is as following: h(t, x) = h0 (t) exp (- 0.022 x2 - 0.494x3 + 0.344x8 + 0.226x9 - 0.259x10).
Coptis is one of the important factors that affect the occurrence of neonatal jaundice, and it has a protective effect in preventing neonatal jaundice from occurrence. - 7677410
- G6PD
- downregulation
- Diagnosis; inactive stage; Pathogenesis
- Method
- G6PD deficiency
- Summary
- This study demonstrates that G6PD deficiency and/or the presence of serum aflatoxins are risk factors for Neonatal jaundice in Nigeria. Aflatoxins are an additional risk factor not previously reported.
- Neonatal jaundice, aflatoxins and naphthols: report of a study in Ibadan, Nigeria. Annals of tropical paediatrics, 1995 Jun [Go to PubMed]
- This study set out to investigate the prevalence of naphthols and aflatoxins in the sera of babies with neonatal jaundice and their mothers in order to determine whether they contribute to the occurrence of unexplained neonatal jaundice in Ibadan. Blood was obtained from 327 jaundiced neonates and 80 of their mothers, and 60 non-jaundiced controls and seven of their mothers admitted to hospital between April 1989 and April 1991. Blood group, bilirubin concentration, erythrocyte G6PD status, aflatoxin and naphthol concentrations in blood were measured. Altogether, 30.9% of the jaundiced neonates were G6PD-deficient, compared with 13.3% of controls (chi 2 = 6.88; p = 0.009). Aflatoxins were detected in 27.4% of jaundiced neonates, 17% of their mothers, 16.6% of controls and 14.4% of control mothers. Naphthols were detected in 7.2% of jaundiced babies, 6.3% of their mothers, 6.25% of control babies and 14.4% of their mothers. Analysis of the data revealed that either G6PD deficiency or the presence of any serumaflatoxin is a risk factor for neonatal jaundice; odds ratio were 2.97 (95%) confidence intervals (CI): 1.31-6.74) and 2.68 (CI: 1.18-6.10), respectively. This study demonstrates that G6PD deficiency and/or the presence of serum aflatoxins are risk factors for neonatal jaundice in Nigeria. Aflatoxins are an additional risk factor not previously reported.
- 24114906
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD deficiency can be used for early and simple investigation method for the Diagnosis of Neonatal jaundice.
- Hematological profile in neonatal jaundice. Journal of basic and clinical physiology and pharm, 2014 May 1 [Go to PubMed]
- Neonatal morbidity due to neonatal jaundice is an alarming situation, which needs to be detected and managed at the earliest possible. Many different etiologies come into play together, and at times, it is difficult to isolate the cause of neonatal jaundice. Certain diagnostic tests such as hemoglobin levels, reticulocyte count, leukocyte count, and blood grouping might hasten the diagnosis. This study analyzes the different parameters of hematological profile and how they influence the various etiologies of neonatal jaundice.
One hundred jaundiced neonates admitted to the pediatric care unit of MKCG Medical Hospital, Odisha, were considered as subjects for this study. Blood tests were done, and accordingly, the neonates were grouped into three depending on the leukocyte count, reticulocyte count, and hemoglobin levels. Blood grouping of mother and baby was done to see the pattern of ABO incompatibility.
Physiological jaundice cases showed no significant variations in hematological profile, while jaundice due to ABO incompatibility, septicemia, Rh incompatibility, intracranial hemorrhage, and G6PD deficiency had anemia, reticulocytosis, and leukocytosis.
The results can be used for early and simple investigation method for the diagnosis of neonatal jaundice. - 10541948
- G6PD
- downregulation
- Diagnosis
- Method
- G6PD-deficient
- Summary
- This finding indicates that the variant promoter of UGT-1 A does not contribute to the development of hyperbilirubinemia in the newborn
- Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome. European journal of pediatrics, 1999 Nov [Go to PubMed]
- The pathogenesis of neonatal hyperbilirubinemia has not yet been completely defined in normal and glucose-6-phosphate-dehydrogenase (G6PD)-deficient newborns. The recent identification of a variant promoter in the gene encoding for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) associated with Gilbert's syndrome, allowed us to explore whether the presence of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficiency. We found that the variant (TA)7/(TA)7 promoter shows no statistically significant difference in normal or G6PD-deficient newborns developing severe hyperbilirubinemia and in control subjects from the same population. This finding indicates that the variant promoter of UGT-1 A does not contribute to the development of hyperbilirubinemia in the newborn.
- 559284
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficient
- Summary
- NA
- Phototherapy for neonatal jaundice in erythrocyte glucose-6-phosphate dehydrogenase-deficient infants. Pediatrics, 1977 Jun [Go to PubMed]
- The effectiveness of phototherapy in the management of neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase (G6PD)-deficient infants was studied."
Prophylacti"
phototherapy for six continuous days commencing from the first day of life was effective in preventing a significant rise in bilirubin levels in 12 G6PD-deficient infants in the first three days, during which period a rapid rise was observed in a control group of G6PD-deficient infants. The hemoglobin levels on the first and eighth postnatal days were comparable in both groups."
Therapeuti"
phototherapy proved equally effective in reducing bilirubin levels in 24 infants with nonhemolytic hyperbilirubinemia and an equal number of infnats with hyperbilirubinemia associated with G6PD deficiency. Phototherapy was efficacious in the prevention or treatment of neonatal hyperbilirubinemia associated with G6PD deficiency; even if its use is prolonged it does not cause hemolysis in such infants. - 22808564
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD deficiency was the most common aetiology for infants presenting from home.
- Epidemiology of neonatal jaundice at the University Hospital of the West Indies. The West Indian medical journal, 2012 Jan [Go to PubMed]
- To describe the epidemiology of neonatal jaundice at the University Hospital of the West Indies (UHWI).
A retrospective review of all neonates at the UHWI with clinically significant jaundice between January 1, 2006 and June 30, 2007 was performed. Demographic, clinical and laboratory data were collected. Descriptive analyses were performed.
The incidence of clinically significant neonatal jaundice at the UHWI was 4.6% for the study period. There were 103 male (61%) and 67 (39%) female infants. The aetiology ofjaundice in the infant was attributed to ABO incompatibility in 59 (35%), infection in 30 (18%), prematurity in 19 (11%), G6PD deficiency in 8 (5%), Rhesus incompatibility in 6 (3.5%) and no cause was identified in 16 (9%) infants. There was a low incidence (26%) ofscreening for G6PD deficiency although it was the most common aetiology for infants presenting from home. Nine (5%) neonates required exchange blood transfusion. Infants admitted from home had a significantly higher mean total bilirubin value at presentation, a significantly higher mean peak bilirubin level andpresented significantly later than those who were admitted from the postnatal ward (p < 0.001). One patient was discharged with a diagnosis of bilirubin encephalopathy but defaulted from follow-up. Two neonates died but from causes unrelated to neonatal jaundice. Sixty-two patients (37%) were followed-up post discharge; 50% had hearing tests done, all tests were normal. Sixty-one (98%) infants had normal development at the time of the study; one patient had impaired motor development but this infant also had a myelomeningocoele.
To further reduce morbidity associated with neonatal jaundice at the UHWI, there should be increased screening for G6PD deficiency; current systems in place for follow-up and monitoring of infants discharged from hospital prior to 72 hours must also be expanded and strengthened. - 20426517
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD deficiency is an important cause for Neonatal jaundice. PK deficiency is not a common cause of Neonatal jaundice.
- Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. Pediatric hematology and oncology, 2010 May [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency can lead to acute hemolytic anemia, chronic nonspherocytic hemolytic anemia, and neonatal jaundice. Neonatal red cell pyruvate kinase (PK) deficiency may cause clinical patterns, ranging from extremely severe hemolytic anemia to moderate jaundice. The authors aimed at studying the prevalence of G6PD and PK deficiency among Egyptian neonates with pathological indirect hyperbilirubinemia in Cairo. This case-series study included 69 newborns with unconjugated hyperbilirubinemia. All were subjected to clinical history, laboratory investigations, e.g., complete blood counts, reticulocytic counts, direct and indirect serum bilirubin levels, Coombs tests, qualitative assay of G6PD activity by methemoglobin reduction test, and measurement of erythrocytic PK levels. The study detected 10 neonates with G6PD deficiency, which means that the prevalence of G6PD deficiency among Egyptian neonates with hyperbilirubinemia is 14.4% (21.2% of males). G6PD deficiency was signficantly higher in males than females (P = .01). The authors detected 2 cases with PK deficiency, making the prevalence of its deficiency 2.8%. These data demonstrate that G6PD deficiency is an important cause for neonatal jaundice in Egyptians. Neonatal screening for its deficiency is recommended. PK deficiency is not a common cause of neonatal jaundice. However, this needs further investigation on a larger scale.
- 12105841
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- (G6PD) deficiency
- Summary
- glucose-6-phosphate dehydrogenase (G6PD) deficiency is crucial to hyperbilirubinemia in white male neonates
- Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia. Gastroenterology, 2002 Jul [Go to PubMed]
- Coinheritance of the A(TA)7TAA promoter variant in the uridine 5'-diphosphate-glucuronosyl transferase 1A1 (UGT1A1) gene and glucose-6-phosphate dehydrogenase (G6PD) deficiency is crucial to hyperbilirubinemia in white male neonates. A variation rate of 29.3% was determined within the coding region of the UGT1A1 gene in Taiwanese subjects, suggesting the hypothesis that this variation may influence incidence of hyperbilirubinemia in male neonates with G6PD deficiency.
The full sequence of the UGT1A1 gene was identified for 212 G6PD-deficient and 232 control male neonates by using polymerase chain reaction (PCR).
Both study and control groups were divided into 5 subgroups according to their UGT1A1 genotypes. Most subjects carried G to A variation at nucleotide 211 for both genotypes of heterozygous variation within coding region and homozygous variation. No significant differences were noted for the frequencies of the 5 UGT1A1 genotypes, gestation age, and birth weight comparing the G6PD-deficient and control groups. The incidence of hyperbilirubinemia, however, was significantly higher for the study group than for the controls. This difference was noted only for the subgroup bearing the homozygous variant of the UGT1A1 gene. In the subgroup of homozygous variation, the serum bilirubin value was significantly higher for G6PD-deficient neonates than for controls. All 11 G6PD-deficient neonates with the homozygous 211 G to A variation suffered from hyperbilirubinemia.
The results indicate that carriage of the homozygous 211 G to A variation within the coding region in the UGT1A1 gene is an additive risk factor for neonatal hyperbilirubinemia in G6PD-deficient Taiwanese male neonates. - 816134
- G6PD
- downregulation
- Diagnosis
- Method
- G6PD deficiency
- Summary
- NA
- Erythrocyte enzymes in neonatal juandice. Acta haematologica, 1976 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a major cause of severe neonatal jaundice in Nigeria, but not all G6PD-deficient babies become jaundiced. Neonatal jaundice not attributable to G6PD deficiency nor to any other known aetiology is also common. In an effort to explain these two facts, we have measured the levels of the three enzymes G6PD, glutathione peroxidase (GSHPX), and glutathione reductase (GSSGR) in 38 jaundiced newborns, 26 control newborns, and 44 normal adults, all of them males. We could not yet prove an additive effect of GSSGR or GSHPX deficiency with G6PD deficiency in causing jaundice. There was no evidence that low levels of GSHPX per se are associated with jaundice. However, jaundiced newborns with normal G6PD had significantly lower levels of GSSGR than control newborns with normal G6PD. These data suggest that a relatively low activity of GSSGR, a riboflavin-dependent enzyme, may predispose the red cells to accelerated destruction in the neonatal period.
- 9596929
- G6PD
- downregulation
- Diagnosis
- Method
- G6PD deficiency
- Summary
- NA
- [The role of NADPH in the development of neonatal jaundice with G6PD deficiency]. Zhonghua yi xue za zhi, 1997 Apr [Go to PubMed]
- To investigate the role of NADPH in the development of neonatal jaundice with G6PD deficiency.
The enzyme activities of G6PD, catalse (Cat) and glutathione peroxidase (GSH-px) were measured by quantitative determination of enzyme activity. The level of MDA was analyzed with alpha-thiobarbituric acid and the level of NADPH was determined with modified Nisselbaum JS's. Comparisons of these markers between G6PD normal and deficient erythrocytes were made before and during the incubation of the erythrocytes with H2O2.
The level of MDA, which was 36 +/- 8n-mol.L-1.gHb-1, was increased and that of NADPH, which was 1792 +/- 106mumol.L-1.gHb-1, was decreased in jaundiced neonates with G6PD deficiency compared with those with normal G6PD activity. When the cells were incubated with H2O2, the level of NADPH and the activities of Cat and GSHpx in erythrocytes with normal G6PD activity increased at first, and then turned to decrease as the incubation lasted longer than 30 minutes. But in G6PD-deficient erythrocytes all these markers decreased continuously as the cells were incubated with H2O2.
The diminished capability of generation of NADPH in G6PD-deficient erythrocytes may contribute directly to the more extensive peroxidation of the cells. The defect capacity of generation of NADPH, which resulted in the weakened capability of antiperoxidation and finally the lysis of erythrocytes, was one of the important mechanisms in the development of jaundice in G6PD-deficient neonates. - 2441650
- G6PD
- downregulation
- Diagnosis
- Method
- G6PD deficiency
- Summary
- Early detection of G6PD deficiency and close surveillance of the affected newborns may be important in reducing the risk of severe Neonatal jaundice and kernicterus associated with G6PD deficiency in Basrah
- Neonatal jaundice and glucose-6-phosphate dehydrogenase deficiency in Basrah. Annals of tropical paediatrics, 1987 Jun [Go to PubMed]
- In a study on a group of 186 newborn babies presenting with jaundice, erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency was detected in 95 (51%) of the patients. The incidence of severe hyperbilirubinaemia appeared to be much greater in G6PD-deficient infants (46%) than in infants who did not have the red cell defect (15%). No change was found in this association when ABO incompatibility was excluded. Phototherapy did not reduce the need for exchange transfusion, which was necessary in 27 babies. Eight babies developed kernicterus and one died. Early detection of G6PD deficiency and close surveillance of the affected newborns may be important in reducing the risk of severe neonatal jaundice and kernicterus associated with G6PD deficiency in Basrah.
- 12663150
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- These data suggest that the G6PD-deficient neonates are at increased risk for hyperbilirubinemia even in the nursery free from agents that can potentially cause hemolysis to G6PD-deficient redcells.
- Hyperbilirubinemia in healthy neonates with glucose-6-phosphate dehydrogenase deficiency. Early human development, 2003 Apr [Go to PubMed]
- A cohort study was carried out to assess the association between glucose-6-phosphate dehydrogenase (G6PD) deficiency, diagnosed by quantitative enzyme assay, and neonatal hyperbilirubinemia, defined as serum total bilirubin >/=15 mg/dl, in the well-baby nursery of Chang Gung Children's Hospital. Among 42,110 inborn infants, 757 male (3.54%) and 326 female (1.57%) newborns were G6PD-deficient. Compared to the occurrence of hyperbilirubinemia in G6PD-normal newborns (1.41% in male, 1.44% in female) in the well-baby nursery, a significantly higher incidence was observed in both G6PD-deficient male (11.36%) and female (7.06%) newborns. Further analyses demonstrated that the enzyme activity of G6PD in G6PD-deficient male newborns with hyperbilirubinemia (1.56+/-1.37 U/g Hb) were significantly lower than the subjects without hyperbilirubinemia (2.01+/-1.7 U/g Hb). No significant difference was observed in G6PD-deficient female newborns with hyperbilirubinemia (6.91+/-2.76 U/g Hb) compared to those without hyperbilirubinemia (7.81+/-2.84 U/g Hb). These data suggest that the G6PD-deficient neonates are at increased risk for hyperbilirubinemia even in the nursery free from agents that can potentially cause hemolysis to G6PD-deficient redcells. The lower G6PD enzyme activity was associated with the neonatal hyperbilirubinemia in G6PD-deficient male neonates.
- 15910447
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficient
- Summary
- Hemolysis is not a main determinant of Neonatal jaundice in G6PD-deficient babies.
- Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies. Pediatrics international : official journal of the, 2005 Jun [Go to PubMed]
- The role of hemolysis in the pathophysiology of neonatal jaundice (NNJ) in patients with glucose 6-phosphate dehydrogenase (G6PD) deficiency has been questioned recently. The aim of the present study was to determine the contribution of hemolysis to the pathophysiology of jaundice in Malay neonates with G6PD deficiency and NNJ.
Four groups of babies were included in the study: (i) G6PD deficient with NNJ; (ii) G6PD deficient without NNJ; (iii) G6PD normal with NNJ; and (iv) normal controls. Babies with other known causes of jaundice were excluded from the study. All subjects underwent the following investigations on day 3-5 after birth: hemoglobin level (Hb), serum bilirubin level, carboxyhemoglobin (CO-Hb) concentration, reticulocyte count and full blood picture. The results of the investigations were compared between the groups using SPSS version 11.
Babies with G6PD and jaundice had a similar percentage of CO-Hb to babies with G6PD without NNJ or babies with normal G6PD and NNJ (1.76 +/- 0.40% vs 1.66 +/- 0.31% and 1.67 +/- 0.28%, respectively; P: 0.23 and 0.41, respectively). Total Hb levels and reticulocyte counts were not significantly different between the groups. The blood film showed more (even though not reaching significance) hemolysis in the G6PD patients but results of the blood film were very similar for G6PD patients with and those without NNJ.
Hemolysis is not a main determinant of neonatal jaundice in G6PD-deficient babies. - 1596589
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD deficiency are the common causes of Neonatal jaundice.
- Neonatal jaundice in Asia. Baillière's clinical haematology, 1992 Jan [Go to PubMed]
- Neonatal jaundice is a major clinical problem globally, especially in the Asian and south-east Asian regions. There is no universal definition of hyperbilirubinaemia, and comparisons of management and control of hyperbilirubinaemia in infants at different centres are difficult. G6PD deficiency, ABO incompatibility, low birth weight and sepsis are the common causes of neonatal jaundice, but there is a group of babies whose cause of neonatal jaundice has yet to be found. Genetic factors may be responsible for ethnic differences in the ability to eliminate bilirubin, while unidentified environmental factors may also play a role in the prevalence of neonatal jaundice. As a result of a surveillance programme for neonatal jaundice in Singapore, involving health education of doctors, nurses and the lay public, screening of the newborn and the early treatment of jaundice, we have not seen a single case of kernicterus in Singapore for more than 10 years.
- 8629093
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- NA
- Glucose-6-phosphate dehydrogenase deficiency in the newborn: its prevalence and relation to neonatal jaundice. The Southeast Asian journal of tropical medicine a, 1995 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent in Thailand. This condition can cause acute hemolysis during oxidative stress and also severe hyperbilirubinemia in the newborn in some populations. Our aim was to study the prevalence of G6PD deficiency in relation to neonatal jaundice. We performed quantitative red blood cell (RBC) G6PD assay in the cord blood of 505 male subjects. Observation of jaundice and determination of bilirubin level as well as work up for other causes of jaundice were made in the G6PD deficiency group comparedto a G6PD normal group. Questionnaires were also sent for further follow up to both groups. The results of the study were as follows: Sixty-one of 505 male (12.08%) had RBC G6PD deficiency (Group I). The rest (444 cases) had normal G6PD (Group II). In Group I, 49.15% developed neonatal jaundice, of which 28.82% were physiologic and 20.33% were pathologic jaundice. In group II, 23.68% developed jaundice; 16.51% were physiologic and 7.17% were pathologic jaundice, respectively. Onset of jaundice, date of peak bilirubin and peak bilirubin level in Group I and Group II were not statistically different. ABO incompatibility was associated with Group I in 17.24% and with Group II in 9.09%. Hospitalization day in Groups I and II were not statistically different. Other associated diseases were found in both groups, ie infection, congenital malformation, respiratory distress syndrome, but there was no significant difference in terms of jaundice. Phototherapy was required in 18.64% and 10.28% in Group I and II with a dration of 3.91 +/- 1.24 and 3.21 +/- 1.75 days, respectively. One case in Group I who was also premature received one exchange blood transfusion due to severe sepsis but he did not survive. One case in Group II who had polycythemia was successfully treated by partial exchange transfusion with plasma.
- 24763104
- G6PD
- downregulation
- Diagnosis
- Method
- G6PD deficiency
- Summary
- ABO incompatibility and G6PD deficiency frequently result in Neonatal jaundice in Makkah, whereas Rh incompatibility and polycythemia are rare
- Evaluation of neonatal jaundice in the Makkah region. Scientific reports, 2014 [Go to PubMed]
- The aims of this study were to detect the frequency at which the different types of neonatal jaundice occur in Makkah and to estimate the malondialdehyde (MDA) levels. This study included 239 neonates with neonatal jaundice, 20 anemic neonates and 21 healthy neonates. ABO incompatibility was observed in 31.6% of neonates with indirect hyperbilirubinemia, in 14.3% of those with early onset jaundice, in 9.5% of those with persistent jaundice, in 8.5% of those with physiological jaundice, in 5% of anemic neonates and in 12% of all neonates. glucose-6-phosphate dehydrogenase (G6PD) deficiency was observed in 10.5% of neonates with indirect hyperbilirubinemia, in 3.9% of those with physiological jaundice, in 11.1% of those with direct hyperbilirubinemia, in 12% of those with persistent jaundice, in 10% of anemic neonates and in 6.6% of all neonates. Rh incompatibility and polycythemia were found in 2.6% of neonates with indirect hyperbilirubinemia and in 0.4% of all neonates. In comparison to control group, MDA ws significantly higher in all groups except for the anemic group. In conclusion, ABO incompatibility and G6PD deficiency frequently result in neonatal jaundice in Makkah, whereas Rh incompatibility and polycythemia are rare. The MDA level may serve as an indicator of oxidative stress.
- 8942026
- G6PD
- downregulation
- Diagnosis
- Method
- G6PD deficiency
- Summary
- NA
- Can severe neonatal jaundice be prevented by neonatal screening for glucose-6-phosphate dehydrogenase deficiency?--a review of evidence. Zhonghua Minguo xiao er ke yi xue hui za zhi [Jour, [Go to PubMed]
- An evidence-based approach is used to evaluate the neonatal screening program for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. The primary consideration to include G-6-PD deficiency (G-6-PDD) in neonatal screening program was the public health burden of G-6-PDD-associated neonatal jaundice (G-6-PDDANJ) in the target population. However, the prevalence of G-6-PDD per se cannot be the sole index of the public health burden of G-6-PDDANJ. In more developed areas, G-6-PDDANJ is no longer a major public health problem. Further, most cases with G-6-PDDANJ in more developed areas are not precipitated by any identifiable icterogenic agents, and therefore not preventable by avoidance education. In less developed areas, however, G-6-PDDANJ is still a big public health burden and requires intervention. In this study, the effectiveness of neonatal screening programs for G-6-PDD to prevent severe neonatal jaundice(NJ) has been shown based on historical comparison, but the results may be confounded by other tempral factors. G-6-PDDANJ usually occurs in the first week after birth. Prompt need for G-6-PD screening results precludes it from incorporation into other existent neonatal screening programs (i.e., for PKU), and from centralization of laboratory work. The efficacy, adverse effects and cost-effectiveness of this mass screening program need further study.
- 8585194
- G6PD
- downregulation
- Diagnosis
- Method
- glucose-6-phosphate dehydrogenase deficiency
- Summary
- G6PD deficiency
- The Le(a) antigen and neonatal hyperbilirubinemia in Taiwan. Vox sanguinis, 1995 [Go to PubMed]
- Neonatal jaundice is known to be more severe in Taiwanese infants than in Caucasian infants. Although ABO fetomaternal incompatibility and glucose-6-phosphate dehydrogenase deficiency have been shown to play a role in the etiology of neonatal jaundice in some Taiwanese infants, the etiology in the majority of cases is unknown. In this study we found that in Taiwanese newborn infants, the red cell Le(a) antigen appeared later in infants who were jaundiced (peak serum bilirubin levels of > 12 mg/dl during the first week of life) than in infants who were not. However, the Leb antigen, and hence the transferase encoded by the Se and Se(w) genes, did not appear to be similarly involved in the etiology of physiological jaundice. Thus it would appear that the Le gene-specified transferase is less active or has a delayed function, in jaundiced infants. The relationship between the Le gene-specified transferase and bilirubin has yet to be established.
- 16417692
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- The Prevalence of G6PD is relatively high in Yanbu. Routine neonatal screening in areas with a high Prevalence of G6PD in Saudi Arabia is justifiable.
- Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Yanbu, Saudi Arabia. Journal of medical screening, 2005 [Go to PubMed]
- To determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the population tested, and to evaluate the prevalence of neonatal jaundice in newborns with G6PD deficiency.
Cord blood of all babies born between October 1996 and October 1998 at the Royal Commission Medical Center in Yanbu, Saudi Arabia, was screened for G6PD deficiency by fluorescent spot test. The results of screening of cord blood samples were reported to the physician in charge, and also placed on the files of the babies and their mothers. These babies were observed for 72 h and discharged if no jaundice developed.
During this two-year period, 2,505 neonatal cord blood samples from 1,278 boys and 1,227 girls were screened for G6PD. There were 50 positive results for G6PD deficiency (39 boys and 11 girls), and the prevalence was estimated to be around 2%. The sex-specific prevalence for boys was 3.05%, and for girls 0.9%. Male to female ratio was 3:1. Neonatal jaundice developed in six (12%) babies, five male and one female. All were treated with phototherapy and discharged within one week of birth.
The prevalence of G6PD is relatively high in Yanbu. Routine neonatal screening in areas with a high prevalence of G6PD in Saudi Arabia is justifiable. - 3436274
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- By analyzing in detail 100 G6PD deficient babies we found no differences in birth weight or haemoglobin level between those without and those with NNJ, four of whom required exchange transfusion. We further showed by an accurate quantitative method that the residual G6PD enzyme activity was not significantly lower in G6PD deficient babies with NNJ compared to G6PD deficient babies ithout NNJ.
- Neonatal jaundice and severity of glucose-6-phosphate dehydrogenase deficiency in Sardinian babies. Early human development, 1987 Nov [Go to PubMed]
- We have investigated the association of neonatal jaundice (NNJ) and G6PD deficiency in consecutive births in a Northern Sardinian hospital. After excluding known causes for NNJ, and after correcting for the incidence of NNJ from unknown causes, we estimated that 20% of G6PD deficient male newborns develop NNJ resulting from their enzyme deficiency. By analyzing in detail 100 G6PD deficient babies we found no differences in birth weight or haemoglobin level between those without and those with NNJ, four of whom required exchange transfusion. We further showed by an accurate quantitative method that the residual G6PD enzyme activity was not significantly lower in G6PD deficient babies with NNJ compared to G6PD deficient babies ithout NNJ.
- 11400792
- G6PD
- downregulation
- Diagnosis
- Method
- G6PD deficiency
- Summary
- NA
- Glucose-6-phosphate dehydrogenase deficiency in Thailand; its significance in the newborn. The Southeast Asian journal of tropical medicine a, 1999 [Go to PubMed]
- The prevalence of G6PD deficiency in Thai males ranges from 3-18% depending upon the geographic region. G6PD"
Mahido"
(163 Gly --> Ser) is the most common variant found in the Thai population. Almost all affected Thai individuals are not anemic and are asymptomatic. Severe acute intravascular hemolysis is occasionally seen, for instance, in those cases who have a viral infection, bacterial infection or have been exposed to chemicals or drugs. In Thailand, diagnosis of G6PD deficiency is usually made only in symptomatic cases. Neonatal screening of G6PD deficiency is not practiced nationwide, though studies have been done in several institutes. The assessment of G6PD activity in the newborn is mostly in order to find out the cause of neonatal jaundice. In our experience and that of others. G6PD deficient newborns are more prone to develop neonatal jaundice which is, on its own, no more severe than jaundice from other causes. Kernicterus due to G6PD deficiency, though still seen, is now very rare. Awareness of the hazard of hyperbilirubinemia, whatever the cause, along with active management is needed to prevent the occurrence of kernictrus. Neonatal screening is useful to detect abnormalities in the newborn. Weighing of the cost and benefit of neonatal screening should be made and the families of patients should be offered proper education and counseling to help them understand their babies' condition. - 22111448
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- glucose-6-phosphate dehydrogenase deficiency
- Summary
- This study aimed to determine the gaps of knowledge and practices of care of Neonatal jaundice among Malaysian mothers
- practices on care of neonatal jaundice. The Medical journal of Malaysia, 2011 Aug [Go to PubMed]
- This study aimed to determine the gaps of knowledge and practices of care of neonatal jaundice among Malaysian mothers. It was a cross sectional study of 400 mothers who attended the obstetric clinics or were admitted to the obstetric wards of a general hospital. They were surveyed with a structured set of questionnaire. The results showed that a majority (93.8%) of them knew about neonatal jaundice, and 71.7% knew that jaundice lasting more than 2 weeks was abnormal. However, only 34.3% of them were aware that jaundice appearing during the first 36 hours of life was abnormal. Less than 20% knew about glucose-6-phosphate dehydrogenase deficiency and that fetal-maternal blood group differences could cause jaundice. Although 71.7% and 69.7%, respectively, of the mothers knew that severe jaundice could cause death and brain damage, only 38.4% of them were aware that severe jaundice could result in hearing impairment. A very low proportion (27.1%) of them was aware that putting jaundiced infants under the directsun could result in dehydration and worsening of jaundice. Out of a maximum score of 15, the mean maternal knowledge score was 7.4 (95% confidence intervals: 7.1, 7.7). Majority (83.1%) of the multiparous mothers with a past history of having children developing neonatal jaundice (n = 154) practiced placing their infants under the direct sun. This study revealed that there was a wide knowledge gap among Malaysian mothers on care of neonatal jaundice. Placing infants under the direct sun was still a common practice.
- 24223971
- G6PD
- downregulation
- Diagnosis; Pathogenesis; Unclassified
- Method
- G6PD deficiency
- Summary
- NA
- Glucose-6-phosphate dehydrogenase (G6PD)-deficient epithelial cells are less tolerant to infection by Staphylococcus aureus. PloS one, 2013 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) is a key enzyme in the pentose phosphate pathway and provides reducing energy to all cells by maintaining redox balance. The most common clinical manifestations in patients with G6PD deficiency are neonatal jaundice and acute hemolytic anemia. The effects of microbial infection in patients with G6PD deficiency primarily relate to the hemolytic anemia caused by Plasmodium or viral infections and the subsequent medication that is required. We are interested in studying the impact of bacterial infection in G6PD-deficient cells. G6PD knock down A549 lung carcinoma cells, together with the common pathogen Staphylococcus aureus, were employed in our cell infection model. Here, we demonstrate that a lower cell viability was observed among G6PD-deficient cells when compared to scramble controls upon bacterial infection using the MTT assay. A significant increase in the intracellular ROS was detected among S. aureus-infected G6PD-deficient cells by observing dichlorofluorescei (DCF) intensity within cells under a fluorescence microscope and quantifying this signal using flow cytometry. The impairment of ROS removal is predicted to enhance apoptotic activity in G6PD-deficient cells, and this enhanced apoptosis was observed by annexin V/PI staining under a confocal fluorescence microscope and quantified by flow cytometry. A higher expression level of the intrinsic apoptotic initiator caspase-9, as well as the downstream effector caspase-3, was detected by Western blotting analysis of G6PD-deficient cells following bacterial infection. In conclusion, we propose that bacterial infection, perhaps the secreted S. aureus α-hemolysin in this case, promotes the accumulation of intracellular ROS in G6PD-deficient cells. This would trigger a stronger apoptotic activity through the intrinsic pathway thereby reducing cell viability when compared to wild type cells.
- 8710395
- G6PD
- downregulation
- Pathogenesis
- Method
- G6PD deficiency
- Summary
- A total of 341 neonates of both sexes with jaundice were analyzed: 47 with G6PD deficiency; 9 with PK deficiency and 2 with GSSG-R deficiency.
- Enzyme deficiencies in neonates with jaundice. Panminerva medica, 1995 Dec [Go to PubMed]
- Numerous findings have shown that enzyme deficiencies, especially those involved in the protection of red cells from oxidation may lead to hemolysis and hyperbilirubinemia. It is established that G6PD deficiency may be the cause of neonatal hyperbilirubinemia, as has been found in several countries and among widely different ethnic groups. We try to establish the incidence of G6PD, PK and GSSG-R deficiencies in neonates with jaundice for a better assessment of the population at risk. The present investigation was carried out in the attempt to be certain whether these enzymes could play a part in the development of neonatal jaundice. A total of 341 neonates of both sexes with jaundice were analyzed: 47 with G6PD deficiency; 9 with PK deficiency and 2 with GSSG-R deficiency.
- 24052930
- G6PD
- downregulation
- Diagnosis
- Method
- G6PD deficiency
- Summary
- This case encouraged us to investigate G6PD deficiency as a differential Diagnosis of severe Neonatal jaundice and hemolytic anemia despite the low Prevalence in Japan.
- A Japanese neonatal case of glucose-6-phosphate dehydrogenase deficiency presenting as severe jaundice and hemolytic anemia without apparent trigger. SpringerPlus, 2013 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is rare among Japanese ethnicity although it is known as one of the most common hereditary disorders of erythrocytes, causing intravascular hemolysis. It is well-known that G6PD deficiency may cause hemolysis even in the neonatal period. However, most cases are asymptomatic, and the frequency of severe anemia is low.
We describe a Japanese male neonatal case of G6PD deficiency presenting as severe, persistent indirect hyperbilirubinemia on day 2 and hemolytic anemia. He was born to non-consanguineous Japanese parents without any family history. We could not find any triggers that could have induced hemolysis during pregnancy.
This case encouraged us to investigate G6PD deficiency as a differential diagnosis of severe neonatal jaundice and hemolytic anemia despite the low prevalence in Japan. - 7305431
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- NA
- Glucose-6-phosphate dehydrogenase status and neonatal jaundice. Archives of disease in childhood, 1981 Nov [Go to PubMed]
- Neonatal jaundice and its relationship to glucose-6-phosphate dehydrogenase (G6PD) status of healthy, term Chinese infants was evaluated in 220 G6PD-deficient infants, 26 intermediate infants who were observed for 3 weeks, and 116 normal (control) infants. Each infant was free of isoimmunisation, cephalhaematomas, or contusions. The mode of labour, method of delivery, and type of feeds had no appreciable effect on daily bilirubin levels."
Elevate"
physiological jaundice was associated with normal and G6PD-deficient status; there was no increased haemolysis. G6PD-deficient status was associated with jaundice significantly raised especially in the first week of life, and prolonged beyond that of the"
elevate"
physiological jaundice. Significantly increased though mild haemolysis was observed. Close surveillance is therefore required for G6PD-deficient infants at least for the first week of life, the period of increased risk. With G6PD-intermediate infants, only the usual measures for normal infants are required. - 22393475
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- We describe here a simple, novel cytofluorometric method that extends the classic methemoglobin reduction test, assessing G6PD deficiency at the level of an individual erythrocyte
- A novel cytofluorometric assay for the detection and quantification of glucose-6-phosphate dehydrogenase deficiency. Scientific reports, 2012 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymopathy that affects hundreds of millions of people worldwide, conferring increased risk of neonatal jaundice and oxidant-induced hemolytic anemia. Screening and diagnosis of G6PD deficiency is currently performed using genetic or biochemical assays, the former being cost ineffective in populations with significant allelic heterogeneity, and the latter being limited in ability to detect female heterozygotes. Cytochemical assays can obviate these shortcomings, but at the expense of added technical complexity and labor. We describe here a simple, novel cytofluorometric method that extends the classic methemoglobin reduction test, assessing G6PD deficiency at the level of an individual erythrocyte. In preliminary testing in Malian children, there was strong concordance between our method and established genetic and biochemical techniques. The assay is robust and economical, and could serve as a screening method as well as a research tool, esecially for high-throughput applications such as flow cytometry.
- 24037046
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- glucose-6-phosphate-dehydrogenase (G6PD) deficiency remains an important causeremains an important cause for Severe Neonatal jaundice (NNJ).
- Reducing the burden of severe neonatal jaundice in G6PD-deficient populations in low-income countries: are we doing enough? International health, 2010 Mar [Go to PubMed]
- Severe neonatal jaundice (NNJ) remains an important cause of hospitalisation in the first week of life particularly in developing countries where glucose-6-phosphate-dehydrogenase (G6PD) deficiency is prevalent. NNJ is seldom associated with mortality when closely monitored but portends significant long-term risks in settings where hospitals are ill-equipped to provide phototherapy or exchange blood transfusion. Early detection in high-risk populations is an important first step towards redressing the current lack of global initiatives on NNJ. Investment in the development of low-cost bilirubin monitoring devices, functional phototherapy units at first-level health facilities and improved care-seeking practices are also essential, particularly in sub-Saharan Africa.
- 24774506
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- Nigeria is frequently associated with disproportionately high rates of severe Neonatal jaundice (NNJ) underpinned by widespread Glucose-6-phosphate dehydrogenase (G6PD) deficiency
- Pattern and predictors of maternal care-seeking practices for severe neonatal jaundice in Nigeria: a multi-centre survey. BMC health services research, 2014 [Go to PubMed]
- Nigeria is frequently associated with disproportionately high rates of severe neonatal jaundice (NNJ) underpinned by widespread Glucose-6-phosphate dehydrogenase (G6PD) deficiency. Timely and appropriate treatment of NNJ is crucial for preventing the associated morbidity and neuro-developmental sequelae. Since mothers are likely to be the first mostly to observe the onset of severe illness in their newborns, we set out to identify the pattern and predictors of maternal care-seeking practices for NNJ in three culturally-distinct settings in Nigeria.
A multi-centre study was conducted among women attending antenatal clinics in Abuja, Lagos and Port Harcourt from October 2011 to April 2012 using a pretested questionnaire. Predictors of awareness of NNJ, accurate recognition of NNJ, use of potentially harmful therapies and preference for future hospital treatment were determined with multivariate logistic regressions.
Of the 488 participants drawn from the three locations, 431 (88.3%) reported awareness of NNJ, predominantly (57.8%) attributable to professional health workers. A total of 309 (63.3%) mothers with prior knowledge of NNJ claimed they could recognise NNJ, but 270 (87.4%) from this group accurately identified the features of NNJ. Multiparous mothers (Adjusted odds ratio, AOR:4.05; 95% CI:1.75-9.36), those with tertiary education (AOR:1.91; CI:1.01-3.61), and those residing in Lagos (AOR:2.96; CI:1.10-7.97) were more likely to have had prior knowledge of NNJ. Similarly, multiparous mothers (AOR:2.38; CI:1.27-4.46) and those with tertiary education (AOR:1.92; CI:1.21-3.05) were more likely to recognise an infant with jaundice accurately. Mothers educated by health workers were 40% less likely to resort to potentially harmful treatment for NNJ (AOR:0.60; CI:0.39-0.92) but more likely to seek hospital treatment in future for an infant suspected with jaundice (AOR:1.88; CI:1.20-2.95).
Women with tertiary education and multiparous mothers who attend routine antenatal clinics are more likely than less educated women, to be associated with appropriate care-seeking practices for infants with NNJ regardless of the socio-cultural setting. Systematic efforts by professional health workers are warranted, as part of routine antenatal care, to engage other groups of mothers especially those likely to indulge in self-use of potentially harmful therapies. - 17489836
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- This supports the massive acute haemolysis can occur in infant with G6PD deficiency in the absence of any obvious blood group incompatibilities, infection, or ingestion of oxidising agents known to trigger haemolysis.
- Massive acute haemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient preterm triplets. Journal of paediatrics and child health, 2007 May [Go to PubMed]
- Premature triplets (2 boys and 1 girl) were delivered at 34 weeks, with both boys identified as Glucose-6-phosphate dehydrogenase (G6PD) deficient. Despite having similar quantitative levels of G6PD in their cord blood, only one boy had severe hyperbilirubinemia and anaemia caused by acute haemolysis requiring exchange transfusion. G6PD-deficient infants with the similar genetic, demographic, maternal, clinical factors and G6PD quantification levels can have different severity of presentation of neonatal jaundice in similar environmental set up. This supports the massive acute haemolysis can occur in infant with G6PD deficiency in the absence of any obvious blood group incompatibilities, infection, or ingestion of oxidising agents known to trigger haemolysis.
- 2603709
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficient
- Summary
- It is concluded that there is an association between genetically determined G-6-PD deficiency and exogenous agents in causing severe NNJ in Nigerian infants
- Relationship between exposure to icterogenic agents, glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice in Nigeria. Acta paediatrica Scandinavica, 1989 Nov [Go to PubMed]
- In a study of the relationship between exposure to icterogenic agents, G-6-PD deficiency and severe neonatal jaundice (NNJ) (serum bilirubin greater than or equal to 205 mumol/l) in 234 Nigerian term male neonates, 106 infants with severe NNJ and 128 controls, it was found that 62.3% of the jaundiced infants and 13.3% of the infants without NNJ were G6PD deficient (p less than 0.01). The proportion of infants exposed to icterogenic agents in the two groups was very similar (p greater than or equal to 0.5). There was a strong association between exposure to icterogenic agents and NNJ in 83 G6PD deficient infants (p less than 0.01), but there was no association between exposure to icterogenic agents and NNJ in the whole group of 234 infants or in 151 infants with normal G6PD status. It is concluded that there is an association between genetically determined G-6-PD deficiency and exogenous agents in causing severe NNJ in Nigerian infants.
- 14972648
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- glucose-6-phosphate dehydrogenase (G6PD) deficiency in relation to hyperbilirubinemia and jaundice
- An update on the prevalence of glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice in Tehran neonates. Clinical biochemistry, 2004 Mar [Go to PubMed]
- The aim of this study was to screen newborns in Tehran for glucose-6-phosphate dehydrogenase (G6PD) deficiency in relation to hyperbilirubinemia and jaundice.
We performed quantitative and qualitative red blood cell (RBC) G6PD assays in cord blood of 2000 male and female at-term neonates. Observations for jaundice and bilirubin determination were made in G6PD-deficient and normal groups. Those with severe jaundice were treated with phototherapy or exchange transfusion.
Our results showed that 2.1% (3.6% of males and 0.6% of females) was G6PD-deficient. Those with severe jaundice and hyperbilirubinemia (160 normal and 17 G6PD-deficient) were hospitalized and treated with phototherapy or exchange transfusion. Bilirubin levels in G6PD-deficient neonates were somewhat higher compared to G6PD-normal babies (18.8 +/- 2.4 mg/dl [321.5 +/- 41 micromol/l] vs. 15.7 +/- 3.2 mg/dl [268.5 +/- 54.7 micromol/l]; P < 0.05). G6PD activity was significantly lower in G6PD-deficient group than in the normal group (2.1 +/- 0.7 vs. 12.5 +/- 5.0 U/g Hb; P < 0.001).
This study shows that the incidence of G6PD deficiency in newborns of Tehran is 2.1%, which is relatively high, and also hyperbilirubinemia and jaundice are approximately 3-fold higher in G6PD-deficient group than in the G6PD-normal group (51% vs. 16%). This emphasizes the necessity of neonatal screening on cord blood samples of both sexes for G6PD deficiency and the need to watch closely for development of hyperbilirubinemia. - 795103
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deiciency
- Summary
- Neonatal jaundice, often associated with G6PD deiciency, is increasing in frequency in urban areas of Africa and now constitutes a significant hazard to the newborn and requires urgent investigation.
- Aspects of tropical paediatrics. Transactions of the Royal Society of Tropical Medi, 1976 [Go to PubMed]
- Malnutrition interacting with infectious and parasitic diseases are the main causes of the appalling mortality in childhood in the tropics. The most important single safeguard against these in infancy is breast feeding and the trend now evident to abandon this is a disaster which demands urgent attention. Reasons for this trend are discussed. Efforts to control infectious diseases, other than smallpox, have had little success and the emergence and spread of dengue haemorrhagic fever in S.E. Asia have added new dimensions to the problem. Malaria is still widely prevalent in the tropics and falciparum malaria, holoendemic in much of Africa, remains a major cause of death with its most serious impact on pregnant women and children. The emergence and spread of drug resistant strains of this parasite in parts of the world is a cause for serious concern. Quartan malaria is also an insidious corruptor of health in childhood and commonly causes the nephrotic syndrome. Neonatal jaundice, often associated with G6PD deiciency, is increasing in frequency in urban areas of Africa and now constitutes a significant hazard to the newborn and requires urgent investigation. These problems in tropical paediatrics indicate the need for urgent reappraisal of our role as a profession in the affairs of the tropical developing world.
- 18177777
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- About 140 mutations have been described: most are single base changes, leading to aminoacid substitutions
- Glucose-6-phosphate dehydrogenase deficiency. Lancet, 2008 Jan 5 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. G6PD deficiency is an X-linked, hereditary genetic defect due to mutations in the G6PD gene, which cause functional variants with many biochemical and clinical phenotypes. About 140 mutations have been described: most are single base changes, leading to aminoacid substitutions. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Some G6PD variants cause chronic haemolysis, leading to congenital non-spherocytic haemolytic anaemia. The most effective management of G6PD deficiency is to prevent haemolysis by avoiding oxidative stress. Screening programmes for the disorder are undertaken, depending on the prevalnce of G6PD deficiency in a particular community.
- 539862
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- NA
- Hemolytic anemia caused by glucose-6-phosphate dehydrogenase deficiency. Archivos de investigación médica, 1979 [Go to PubMed]
- Results are reported concerning quantitation of glucose -6- phosphate dehydrogenase (G6PD) enzyme activity where in one of the members of a family a clinical diagnosis of acute hemolytic anemia due to G6PD deficiency had been established. In the propositus, G6PD levels were found to be less than 10 per cent thus confirming diagnosis; the same enzymatic deficiency was identified in one of the siblings without a history of hematologic pathology and in a maternal cousin with a history of neonatal jaundice as well as two obliged carriers. Electrophoretical enzyme phenotype was similar to A variant in three affected males. Advantages of prevention and medical care possible with early diagnosis of G6PD deficiency are discussed.
- 508636
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- the jaundice is probably precipitated by unknown factors to which the G6PD deficient neonate is more susceptible than the infant who is not G6PD deficient.
- Glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice in Jamaica. British journal of haematology, 1979 Oct [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency was detected in 16 (69.6%) of a group of 23 neonates who had unexplained moderate or severe jaundice. This proportion is significantly more than the 9.4% observed or the 22.2% expected in Jamaican neonates who are not moderately or severely jaundiced (P less than 0.003), and significantly more than the 12.6% observed or the 21.0% expected in older Jamaican children and adults (P less than 0.003). Phenobarbitone therapy and phototherapy reduced the need for exchange transfusion but this was necessary in eight patients. Two babies developed kernicterus and one died. On the other hand, only two of 21 neonates who were identified as G6PD deficient at birth subsequently became moderately or severely jaundiced, and this could be attributed to other causes in both cases. These findings indicate that apparently spontaneous neonatal jaundice is important in infants who have the G6PD A--enzyme. However, the jaundice is probably precipitated by unknown factors to whic the G6PD deficient neonate is more susceptible than the infant who is not G6PD deficient. THere is also a slightly increased incidence of G6PD deficiency in neonates who develop jaundice because of ABO or Rh(D) iso-immune disease, infection or prematurity.
- 11433050
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- In comparison with normal neonates, G-6-PD-deficient neonates experienced a twofold increase in the Prevalence of significant hyperbilirubinemia requiring phototherapy.
- A single dose of Sn-mesoporphyrin prevents development of severe hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient newborns. Pediatrics, 2001 Jul [Go to PubMed]
- Severe neonatal jaundice is a common clinical manifestation of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and the most difficult to manage; kernicterus is not an uncommon outcome. We assessed in healthy, direct Coombs test-negative Greek newborns of >/=38 weeks' gestational age 1) the current burden of G-6-PD deficiency-associated severe jaundice, and 2) the efficacy of preventive use of Sn-mesoporphyrin (SnMP), a potent inhibitor of heme oxygenase activity and thus of bilirubin production, in ameliorating jaundice in G-6-PD-deficient neonates.
The studies were conducted at Metera Maternity Hospital in Athens, Greece. Enrolled newborns had the plasma bilirubin concentration (PBC) determined in cord blood and daily thereafter until a declining level was obtained and the case was closed. Intervention with phototherapy was dictated at exact, age-specific PBC levels. In our initial study, we enrolled consecutive mature healthy G-6-PD-deficient newborns as well as a threefold excess of G-6-PD-normal neonates born at approximately the same time (control group). For the SnMP trial, G-6-PD-deficient neonates were administered SnMP as a single intramuscular dose of 6 micromol/kg birth weight within 24 +/- 12 hours of age.
SnMP was administered at 26.7 +/- 6.1 hours of age to 172 G-6-PD-deficient newborns (group A); 168 G-6-PD-normal (group B) and 58 G-6-PD-deficient (group C) newborns who were enrolled earlier provided the comparison groups. Except for the expected excess of males in the G-6-PD-deficient groups (A and C), there were no differences in the demographic characteristics among the 3 groups. The incremental changes in PBC from cord blood to 24 hours of age also were similar (group A: 4.13 +/- 1.32 mg/dL; group B: 4.05 +/- 1.34 mg/dL; group C: 4.39 +/- 1.07 mg/dL), but there were significant differences in the next period, 24 to 48 hours of age (group A: 0.63 +/- 1.44 mg/dL; group B: 1.69 +/- 1.5 mg/dL; group C: 2.45 +/- 1.72 mg/dL). Peak PBC was significantly different (group A: 7.81 +/- 3.04 mg/dL; group B: 8.68 +/- 3.1 mg/dL; group C: 11.24 +/- 3.76 mg/dL) as was the age at which peak PBC was recorded (group A: 56 +/- 29 hours of age; group B: 69 +/- 26 hours of age; group C: 83 +/- 29 hours of age). These differeces in favor of group A were observed despite the fact that phototherapy was used in 15% of the newborns in group B and 31% of those in group C, whereas none of those treated with SnMP required phototherapy. Finally, in one female, who was heterozygous for G-6-PD deficiency, in group C phototherapy failed and 2 exchange transfusions were performed.
In comparison with normal neonates, G-6-PD-deficient neonates experienced a twofold increase in the prevalence of significant hyperbilirubinemia requiring phototherapy. A single dose of SnMP administered in the 1st day of life to the G-6-PD-deficient newborns shifted the peak PBC distribution to the left (lower values) even in relation to normal neonates and entirely eliminated the need for phototherapy. Interdiction of bilirubin production by use of a heme oxygenase inhibitor such as SnMP represents a simple and highly effective means for the preventive management of jaundice in G-6-PD-deficient newborns. - 18547022
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- Neonatal jaundice is a clinical manifestations of G6PD deficiency.
- [Glucose-6-phosphate dehydrogenase deficiency: clinical presentation and eliciting factors]. Nederlands tijdschrift voor geneeskunde, 2008 May 3 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a hereditary X-linked disorder, is the most common enzymatic disorder of red blood cells in humans, affecting more than 200 million people worldwide. The prevalence is increasing in the Netherlands due to immigration of people from the Middle East and Africa. We present three different clinical manifestations of G6PD deficiency: neonatal jaundice, haemolysis provoked by infection and haemolysis caused by fava beans. The pathophysiology and treatment are discussed. Furthermore a recent update of chemicals which should be avoided in G6PD deficiency is provided.
- 7079890
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- These findings indicate that G-6-PD deficiency contributes significantly to the severity of Neonatal jaundice in the population group studied and should be regarded as a potentially dangerous condition.
- The effect of glucose-6-phosphate dehydrogenase deficiency on the severity of neonatal jaundice in Cape Town. South African medical journal = Suid-Afrikaanse ty, 1982 May 22 [Go to PubMed]
- A study was made of 3718 newborn infants with jaundice in excess of physiological levels. Prematurity, haemolytic disease, haematomas or infections were present in 1278 patients. Of the remaining 2440 neonates, 137 were deficient in glucose-6-phosphate dehydrogenase (G-6-PD) and 2303 had idiopathic hyperbilirubinaemia. Exchange transfusion was necessary in 59 (42,7%) of the patients with G-6-PD deficiency and in 426 (18,5%) of those with idiopathic hyperbilirubinaemia. Kernicterus occurred in 3 infants (2,2%) with G-6-PD deficiency and in 3 (0,13%) with idiopathic hyperbilirubinaemia. These findings indicate that G-6-PD deficiency contributes significantly to the severity of neonatal jaundice in the population group studied and should be regarded as a potentially dangerous condition.
- 10745013
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD deficiency causes Neonatal jaundice.
- Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency. Structure (London, England : 1993), 2000 Mar 15 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) catalyses the first committed step in the pentose phosphate pathway; the generation of NADPH by this enzyme is essential for protection against oxidative stress. The human enzyme is in a dimer<-->tetramer equilibrium and its stability is dependent on NADP(+) concentration. G6PD deficiency results from many different point mutations in the X-linked gene encoding G6PD and is the most common human enzymopathy. Severe deficiency causes chronic non-spherocytic haemolytic anaemia; the usual symptoms are neonatal jaundice, favism and haemolytic anaemia.
We have determined the first crystal structure of a human G6PD (the mutant Canton, Arg459-->Leu) at 3 A resolution. The tetramer is a dimer of dimers. Despite very similar dimer topology, there are two major differences from G6PD of Leuconostoc mesenteroides: a structural NADP(+) molecule, close to the dimer interface but integral to the subunit, is visible in all subunits of the human enzyme; and an intrasubunit disulphide bond tethers the otherwise disordered N-terminal segment. The few dimer-dimer contacts making the tetramer are charge-charge interactions.
The importance of NADP(+) for stability is explained by the structural NADP(+) site, which is not conserved in prokaryotes. The structure shows that point mutations causing severe deficiency predominate close to the structural NADP(+) and the dimer interface, primarily affecting the stability of the molecule. They also indicate that a stable dimer is essential to retain activity in vivo. As there is an absolute requirement for some G6PD activity, residues essential for coenzyme or substrate binding are rarely modified. - 21302115
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- Molecular analysis revealed combined missense mutations in exons 12 and 13. The first mutation was 1376 G→T predicting 459 Arg→Leu (known as G6PD Canton) and the second one was 1502 T→G predicting 501 Phe→Cys,causing G6PD deficiency。
- Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi. Annals of hematology, 2011 Jul [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymopathies worldwide. Mostly G6PD deficient cases are asymptomatic though they may have the risk of neonatal jaundice (NNJ) and acute intravascular hemolysis during oxidative stress. Chronic nonspherocytic hemolytic anemia (CNSHA) due to G6PD deficiency is rare. In Thailand, one case was reported 40 years ago and by biochemical study this G6PD was reported to be a new variant G6PD Bangkok. We, herein, report two families with CNSHA due to G6PD deficiency. In the first family, we have been following up the clinical course of the patient with G6PD Bangkok. In addition to chronic hemolysis, he had three acute hemolytic episodes requiring blood transfusions during childhood period. Multiple gallstones were detected at the age of 27. His two daughters who inherited G6PD Bangkok from him and G6PD Vanua Lava from his wife are asymptomatic. Both of them had NNJ and persistent evidences of compensated hemolysis. Molecular aalysis revealed a novel missense mutation 825 G→C predicting 275 Lys→Asn causing G6PD Bangkok. In the second family, two male siblings are affected. They had NNJ and several hemolytic episodes which required blood transfusions. On follow-up they have been diagnosed with chronic hemolysis as evidenced by reticulocytosis and indirect hyperbilirubinemia. Molecular analysis revealed combined missense mutations in exons 12 and 13. The first mutation was 1376 G→T predicting 459 Arg→Leu (known as G6PD Canton) and the second one was 1502 T→G predicting 501 Phe→Cys. We designated the resulting novel G6PD variant, G6PD Bangkok Noi.
- 9628306
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD-deficient neonates, compared with those with either condition alone, are not at increased risk for hemolysis or hyperbilirubinemia.
- Combination of ABO blood group incompatibility and glucose-6-phosphate dehydrogenase deficiency: effect on hemolysis and neonatal hyperbilirubinemia. Acta paediatrica (Oslo, Norway : 1992), 1998 Apr [Go to PubMed]
- The incidence (%) of hyperbilirubinemia (serum bilirubin > or = 257 micromol/l) was similar in neonates with a combination of ABO incompatibility and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency (45%), with ABO incompatibility (54%) or G-6-PD deficiency (37%), alone (ns). Carboxyhemoglobin values, corrected for inspired CO, were similarly elevated in all three groups (0.87 +/- 0.32%, 0.82 +/- 0.29%, 0.76 +/- 0.18%, respectively, ns), but correlated with bilirubin only in those with ABO incompatibility alone. ABO-incompatible/G-6-PD-deficient neonates, compared with those with either condition alone, are not at increased risk for hemolysis or hyperbilirubinemia.
- 8861278
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD mutations cause G6PD deficiency and Neonatal jaundice occurs in G6PD deficiency.
- G6PD: population genetics and clinical manifestations. Blood reviews, 1996 Mar [Go to PubMed]
- The glucose-6-phosphate dehydrogenase (G6PD) gene is X-linked. There are numerous mutations that cause a deficiency of this enzyme in erythrocytes. G6PD deficiency can produce anemia, both when drugs are administered and under the stress induced by infection. Functionally severe variants cause hereditary non-spherocytic hemolytic anemia, i.e. anemia even in the absence of stress. Neonatal jaundice occurs in G6PD deficiency, but it is likely that it is largely due to impairment of liver function, rather than to hemolysis. It has been suggested that there are clinical manifestations of G6PD deficiency that are related to other tissues, but the existence of these is not well documented. Some mutations that produce G6PD deficiency in red cells exist at polymorphic frequencies. Individuals with such mutations seem to have enjoyed a selective advantage because of resistance to falciparum malaria. Different mutations, each characteristic of certain populations, are found, and have been characterized at the deoxyribnucleic acid (DNA) level. G6PD A-(202A376G) is the most common African mutation. G6PD Mediterranean(563T) is found in Southern Europe, the Middle East and in the Indian subcontinent. Several other mutations are common in Asia. Genetic variability of G6PD has played an important role in the understanding of a variety of developmental processes.
- 197610
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- Twenty hemolytic accidents due to G6PD deficiency in Algeria are reported:2 cases of Neonatal jaundice.
- [Hemolytic anemia caused by glucose-6-phosphate dehydrogenase deficiency. Aprpos of 20 cases from 1969 to 1974]. La semaine des hôpitaux : organe fondé par l'Ass, 1977 Apr 23 [Go to PubMed]
- Twenty hemolytic accidents due to G6PD deficiency in Algeria are reported: 13 cases of favism, 2 cases of neonatal jaundice, one drug accident (aspirin), 4 of unknown cause. These accidents concern above all children, were clinically severe and required transfusion.
- 23569738
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD deficiency is not related to severe hyperbilirubinemia and considering the high miscegenation in this area of Brazil, other gene interactions should be investigated.
- Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil. Asian Pacific journal of tropical biomedicine, 2011 Apr [Go to PubMed]
- To evaluate the correlation between glucose-6-phosphate-dehydrogenase (G6PD) deficiency and neonatal jaundice.
Prospective, observational case-control study was conducted on 490 newborns admitted to Hospital de Clínicas de Porto Alegre for phototherapy, who all experienced 35 or more weeks of gestation, from March to December 2007. Enzymatic screening of G6PD activity was performed, followed by PCR.
There was prevalence of 4.6% and a boy-girl ratio of 3:1 in jaundiced newborns. No jaundiced neonate with ABO incompatibility presented G6PD deficiency, and no Mediterranean mutation was found. A higher proportion of deficiency was observed in Afro-descendants. There was no association with UGT1A1 variants.
G6PD deficiency is not related to severe hyperbilirubinemia and considering the high miscegenation in this area of Brazil, other gene interactions should be investigated. - 6474557
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- NA
- A prospective study of the role of bacterial infection and G6PD deficiency in severe neonatal jaundice in Nigeria. Tropical and geographical medicine, 1984 Jun [Go to PubMed]
- 109 Nigerian neonates with serum bilirubin of 12 mg% and above, who presented at the Children's Emergency Room of the University College Hospital, Ibadan between November 1980 and February 1981 were investigated for bacterial sepsis and other causes of hyperbilirubinaemia. A detailed history of exposure to drugs likely to be icterogenic was also taken. Of the 109 infants, 67 (62%) were G6PD deficient and 41 (67%) of the latter had no obvious cause for the precipitation of jaundice. However 106 (97%) of the jaundiced infants had been exposed to agents capable of causing haemolysis in G6PD deficiency; 24 (22%) had bacteriologically proven septicaemia and in only five (4.6%) was sepsis the sole cause of hyperbilirubinaemia. There was no significant differences in the frequency of bacteriologically proven sepsis between the infants with normal or deficient G6PD status. Septicaemia however significantly increased the severity of jaundice among G6PD deficient infants. This study suggests that infection is common i severely jaundiced Nigerian infants and there is a need to reassess the role of exogenous agents in the pathogenesis of neonatal hyperbilirubinaemia in our community.
- 20007901
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- We found that the G6PD-Mahidol(487A) variant reduces vivax, but not falciparum, parasite density in humans, which indicates that Plasmodium vivax has been a driving force behind the strong selective advantage conferred by this mutation.
- Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians. Science (New York, N.Y.), 2009 Dec 11 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency--the most common known enzymopathy--is associated with neonatal jaundice and hemolytic anemia usually after exposure to certain infections, foods, or medications. Although G6PD-deficient alleles appear to confer a protective effect against malaria, the link with clinical protection from Plasmodium infection remains unclear. We investigated the effect of a common G6PD deficiency variant in Southeast Asia--the G6PD-Mahidol(487A) variant--on human survival related to vivax and falciparum malaria. Our results show that strong and recent positive selection has targeted the Mahidol variant over the past 1500 years. We found that the G6PD-Mahidol(487A) variant reduces vivax, but not falciparum, parasite density in humans, which indicates that Plasmodium vivax has been a driving force behind the strong selective advantage conferred by this mutation.
- 17127778
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- This study shows that the Prevalence of PK deficiency in Indian Neonatal jaundice and this emphasizes the need for screening Neonatal hyperbilirubinemia cases in India for PK deficiency.
- Red cell pyruvate kinase deficiency in neonatal jaundice cases in India. Indian journal of pediatrics, 2006 Nov [Go to PubMed]
- Pyruvate Kinase (PK) deficiency is the most common enzymopathy of the glycolytic pathway in erythrocytes. It constitutes one of the common causes of hereditary non-spherocytic hemolytic anemia. The aim of this study was to screen newborns in India for pyruvate kinase (PK) deficiency in relation to unconjugated hyperbilirubinemia.
Laboratory investigations done included complete blood counts, reticulocyte counts, direct and indirect bilirubin, assay of G6PD and PK activity, ATP and 2,3 DPG levels. All variables were studied in 50-cord blood samples from normal deliveries and 218 neonates with hyperbilirubinemia.
7 of the 218 cases of neonatal jaundice were PK deficient with 30-40% reduction in PK activity. These cases also had a 3-4-fold increase in 2,3 DPG:ATP ratios, which is one of the additional indicators for PK deficiency. Six of the 7 infants had a severe clinical course.
This study shows that the prevalence of PK deficiency in Indian neonatal jaundice cases is 3.21%, which is relatively high. This emphasizes the need for screening neonatal hyperbilirubinemia cases in India for PK deficiency. - 23874768
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- There was no association between vital parameters or hematocrit and G6PD deficiency. We found that a history of scleral icterus may increase the odds of G6PD deficiency, but we did not exclude other common causes of icterus such as sickle cell disease or malarial infection.
- Glucose-6-phosphate dehydrogenase deficiency in Nigerian children. PloS one, 2013 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy and in Sub-Saharan Africa, is a significant cause of infection- and drug-induced hemolysis and neonatal jaundice. Our goals were to determine the prevalence of G6PD deficiency among Nigerian children of different ethnic backgrounds and to identify predictors of G6PD deficiency by analyzing vital signs and hematocrit and by asking screening questions about symptoms of hemolysis. We studied 1,122 children (561 males and 561 females) aged 1 month to 15 years. The mean age was 7.4 ± 3.2 years. Children of Yoruba ethnicity made up the largest group (77.5%) followed by those Igbo descent (10.6%) and those of Igede (10.2%) and Tiv (1.8%) ethnicity. G6PD status was determined using the fluorescent spot method. We found that the overall prevalence of G6PD deficiency was 15.3% (24.1% in males, 6.6% in females). Yoruba children had a higher prevalence (16.9%) than Igede (10.5%), Igbo (10.1%) and Tiv (5.0%) children. The odds of 6PD deficiency were 0.38 times as high in Igbo children compared to Yoruba children (p=0.0500). The odds for Igede and Tiv children were not significantly different from Yoruba children (p=0.7528 and 0.9789 respectively). Mean oxygen saturation, heart rate and hematocrit were not significantly different in G6PD deficient and G6PD sufficient children. The odds of being G6PD deficient were 2.1 times higher in children with scleral icterus than those without (p=0.0351). In conclusion, we determined the prevalence of G6PD deficiency in Nigerian sub-populations. The odds of G6PD deficiency were decreased in Igbo children compared to Yoruba children. There was no association between vital parameters or hematocrit and G6PD deficiency. We found that a history of scleral icterus may increase the odds of G6PD deficiency, but we did not exclude other common causes of icterus such as sickle cell disease or malarial infection.
- 24460025
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- Male C563T hemizygotes suffer from G6PD deficiency and severe Neonatal jaundice. G6PD activity showed statistically significant correlation with total bilirubin blood levels.
- Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening. Scandinavian journal of clinical and laboratory in, 2014 Apr [Go to PubMed]
- Glucose-6-Phosphate Dehydrogenase (G6PD) gene is located at the X-chromosome at Xq28 and the disease is recessively inherited predominantly in males. More than 400 variants have been proposed based on clinical and enzymatic studies. The aim of the current study was to identify C563T mutation in G6PD-deficient newborns and to correlate the enzyme residual activity with the presence of the mutation. Some 1189 full-term neonates aged 3-5 days old were tested for G6PD activity in dried blood spots from Guthrie cards using a commercial kit. DNA extraction from Guthrie cards and mutation identification among the deficient samples were performed with current techniques. A total of 92 (7.7%) newborns were G6PD-deficient. In 46 (50%), the mutation C563T was identified. The residual activity in C563T hemizygote males (n = 28) was statistically significantly lower (1.23 ± 0.93 U/g Hb) than that in non-C563T G6PD-deficient males (n = 25) (4.01 ± 1.20 U/g Hb, p < 0.0001) and in controls (13.6 ± 2.9 U/g Hb, p < 0.0001). In C563T heterozygote females, the estimated enzyme activity was lower than that determined in non-C563T females. Male C563T hemizygotes suffer from G6PD deficiency and severe neonatal jaundice. G6PD activity showed statistically significant correlation with total bilirubin blood levels.
- 16792831
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD deficiency causes Neonatal jaundice in most cases.
- Prevalence of G6PD deficiency in newborns in the south of Brazil. Journal of medical screening, 2006 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and in association with intake of drugs or certain foods (for example fava) can cause haemolytic crises. The aim of this study was to determine the prevalence of G6PD deficiency in Rio Grande do Sul (RS), the southernmost state of Brazil. We tested 2799 newborn blood samples. A commercial kit was used for the quantitative measurement of G6PD activity. Of the 2799 samples, 39 (1.4%) exhibited total deficiency, 178 (6.4%) exhibited intermediate deficiency and 2582 (92.2%) were normal. We found no correlation between G6PD deficiency and ethnic origin, but a high prevalence of patients with partial deficiency could be associated with the type of colonization of RS. The combined prevalence for both types of deficiency (complete and partial) was 7.9% among the newborn population. This finding is important as both types of deficiency must receive same kind of preventive care.
- 1719925
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD deficiency seems to be a relatively common cause of Neonatal jaundice.
- Increased incidence of hyperbilirubinaemia in 'unchallenged' glucose-6-phosphate dehydrogenase deficiency in term Saudi newborns. Annals of tropical paediatrics, 1991 [Go to PubMed]
- The incidence of severe hyperbilirubinaemia was significantly higher among the G6PD-deficient Saudi infants born at term than in non-deficient babies (34% vs 9%) (p less than 0.005). No apparent offending factors were detected in either the babies or their mothers. All babies who developed hyperbilirubinaemia did so during the 1st week of life. The highest mean bilirubin level for all jaundiced G6PD-deficient babies was recorded on the 4th postnatal day. Although the incidence of severe hyperbilirubinaemia among our neonates was relatively high, only two of them (7%), a boy and a girl, required exchange transfusions. Five of 29 jaundiced babies with G6PD deficiency were readmitted after discharge because of significant jaundice. One required exchange transfusion. Since G6PD deficiency seems to be a relatively common cause of neonatal jaundice in Saudi newborns, early detection of this enzymopathy by cord blood screening is justified to avoid morbidity and deaths.
- 1283668
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- neonatal screening for G6PD deficiency, together with a comprehensive education programme, is advisable in those parts of the world where the severe variant of G6PD deficiency is prevalent.
- Screening for glucose-6-phosphate dehydrogenase deficiency can prevent severe neonatal jaundice. Annals of tropical paediatrics, 1992 [Go to PubMed]
- Infants with the severe variant of glucose-6-phosphate dehydrogenase (G6PD) deficiency may develop hyperbilirubinaemia sufficiently severe to cause kernicterus and death, acute haemolysis on exposure to oxidant stress, congenital non-spherocytic haemolytic anaemia and, rarely, increased susceptibility to bacterial infection. In spite of these potential problems, G6PD deficiency is often not included among screening programmes for inherited disorders. In a comprehensive screening and educational programme, we tested around 34,000 infants for G6PD deficiency. Of the total group, 18.4% (24.5% boys and 11.8% girls) were deficient. Forty-two of the 6246 (0.67%) G6PD-deficient infants required exchange transfusion. None of them developed kernicterus. By contrast, of 4755 infants who had not been screened because they were born at home, three developed kernicterus. In addition, four G6PD-deficient infants had developed kernicterus in the 20-month period prior to the screening programme. None of the hyperbilirubinaeic infants had blood group incompatibility or any other identifiable cause of hyperbilirubinaemia. To avoid this disastrous result, we believe that neonatal screening for G6PD deficiency, together with a comprehensive education programme, is advisable in those parts of the world where the severe variant of G6PD deficiency is prevalent.
- 10772881
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen). diseases, 2000 Feb [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-chromosome-linked hereditary disorder. Clinically, patients with G6PD deficiency often present with drug- or food-induced hemolytic crises or neonatal jaundice. G6PD is involved in the generation of NADPH and reduced glutathione. In contrast to American, Mediterranean, and African ancestries, only few variants are known from Middle and Northern Europe. We describe the molecular characterization of a distinct variant from the northwestern area of Germany, G6PD Aachen. The sequence of the G6PD gene from three afflicted males was found to be hemizygous at cDNA residue 1089 for a C-->G mutation with a predicted amino acid change of Asn363Lys. The 1089 C-->G point mutation is unique, but produces the identical amino acid change found in a Mexican variant of G6PD deficiency, G6PD Loma Linda. This G6PD-deficient variant is caused by a 1089 C-->A mutation. The 363-amino-acid replacement is located outside a known mutation cluster region between amino acid residues 380 and 450, but may disrupt or weaken dimer interactions of G6PD enzyme subunits.
- 21073074
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- G6PD enzyme activity in normal term Malaysian neonates and adults using a OSMMR2000-D kit with Hb normalization. The Southeast Asian journal of tropical medicine a, 2010 Jul [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the commonest causes of neonatal jaundice in Malaysia. Screening of cord blood for G6PD deficiency by the semiquantitative fluorescent spot test (FST) is performed in Malaysia but this test can miss cases of partial G6PD deficiency. The OSMMR-D kit assay measures G6PD activity and hemoglobin (Hb) concentration, allowing direct expression of results in U/gHb. We evaluated this method and established the normal range for G6PD activity in normal term neonates and adults. EDTA blood from 94 neonates and 295 adults (age 15-59 years old) with normal Hb and FST were selected. The normal means for G6PD activity for neonates and adults were 12.43 +/- 2.28 U/gHb and 9.21 +/- 2.6 U/gHb, respectively; the reference ranges for normal G6PD activity in neonates and adults were 10.15-14.71 U/gHb and 6.61-11.81 U/gHb respectively. There were no significant differences in mean normal G6PD activity between the Malays and Chinese racial groups or between genders. Theupper and lower limit cut-off points for partial deficiency in neonates were 7.4 U/gHb (60% of the normal mean) and 2.5 U/gHb (20% of the normal mean), respectively. For adults, the upper and lower limit cut-off points for partial deficiency in adults were 5.52 U/gHb (60% of the normal mean) and 1.84 U/gHb (20% of the normal mean), respectively. The quantitation of G6PD enzymes using this OSMMR-D kit with Hb normalization was simple since the Hb was analyzed simultaneously and the results were reproducible with a CV of less than 5%.
- 17623517
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Glucose-6-phosphate dehydrogenase--from oxidative stress to cellular functions and degenerative diseases. Redox report : communications in free radical rese, 2007 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD), the first and rate-limiting enzyme of the pentose phosphate pathway, is indispensable to maintenance of the cytosolic pool of NADPH and thus the cellular redox balance. The role of G6PD as an antioxidant enzyme has been recognized in erythrocytes for a long time, as its deficiency is associated with neonatal jaundice, drug- or infection-mediated hemolytic crisis, favism and, less commonly, chronic non-spherocytic hemolytic anemia. To a large extent, advances in the field were made on the pathophysiology of G6PD-deficient erythrocytes, and the molecular characterization of different G6PD variants. Not until recently did numerous studies cast light on the importance of G6PD in other aspects of the physiology of both cells and organisms. Deficiency in G6PD activity, and hence a disturbance in redox homeostasis, can lead to dysregulation of cell growth and signaling, anomalous embryonic development, altered susceptibility to viral infection as well as increased susceptiblity to degenerative diseases. The present review covers recent developments in this field. Additionally, molecular characterization of G6PD variants, especially those frequently found in Taiwan and Southern China, is also addressed.
- 11783956
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE The main cause of Neonatal jaundice is associated with G6PD deficiency.
- Low glucose-6-phosphate dehydrogenase enzyme activity level at the time of hemolysis in a male neonate with the African type of deficiency. diseases, [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) levels are not usually drawn in the evaluation of black neonates with hyperbilirubinemia because of the oft-stated opinion that the levels may be normal at the time of hemolysis and thus will be misleading. In fact, this opinion is not applicable to newborns as many studies have shown that deficiency in the conjugating ability of the liver, not hemolysis, is the main cause of neonatal jaundice associated with G6PD deficiency. We present a case report of a neonate with brisk hemolysis and hyperbilirubinemia in whom the G6PD level was abnormally low at the time of the hemolytic episode. DNA analysis showed him to have the A-(202A,376G) variant and, as well, the UGT1A1 promoter repeat polymorphism associated with Gilbert's disease. This case, as well as a review of the literature, indicates that enzyme levels are not normal in patients with G6PD A- who are undergoing hemolysis.
- 7678928
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- 'Idiopathic' jaundice in Sardinian full-term newborn infants: a multivariate study. Paediatric and perinatal epidemiology, 1993 Jan [Go to PubMed]
- 'Idiopathic' hyperbilirubinaemia in the first 4 days of life was studied in 431 unselected healthy full-term (gestational age > or = 37 weeks) singleton Sardinian infants with birthweight > or = 2500 g. All infants were free from malformations or any disease requiring treatment other than jaundice, they were ABO and Rh compatible with their mothers and were not G6PD deficient. The serum bilirubin level was > 11.9 mg/dl (204 mumol/l) and > 14.9 mg/dl (256 mumol/l) in 37.1% and 15.3% of the study subjects. The vast majority of the infants (94%) were breast fed; no difference in the incidence of jaundice was found between breast-fed and bottle-fed infants. A logistic regression analysis indicated that high alpha-fetoprotein concentrations in cord blood, history of neonatal jaundice in previous full-term siblings, delayed first meconium passage and weight loss were associated with jaundice, defined as a serum bilirubin level > 11.9 mg/dl. These results suggest that the high rate of neonatal hyperbilirubinaemia in Sardinia is mostly related to constitutional and possibly hereditary factors.
- 22910623
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Glucose-6-phosphate dehydrogenase screening of babies born in a tertiary care hospital in West Bengal. Indian journal of public health, [Go to PubMed]
- About 400 million individuals worldwide have been affected by the inherited disorder of glucose-6-phosphate dehydrogenase (G6PD) deficiency that predisposes individuals to neonatal jaundice or hemolytic crisis due to drugs or infections. A descriptive observational study with longitudinal design was undertaken among 109 live newborns, delivered in labor room of IPGME and R, Kolkata during the period from June to August 2009. An objective of the study was to estimate the occurrence of G6PD deficiency among newborns and its association with different socio-demographic, clinical and gestational characteristics. 14.68% newborns were found G6PD deficient. This occurrence was not significantly related to gender, religion and ethnicity, consanguineous marriage of the parents, gestational age and birth weight of the baby. Development of severe jaundice (total serum bilirubin >15 mg/dl) was found 23.8% among G6PD deficient babies and 12.5% among non-G6PD deficient. This difference was statistically not significant.
- 11581450
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Onset of jaundice in glucose-6-phosphate dehydrogenase-deficient neonates. Pediatrics, 2001 Oct [Go to PubMed]
- We asked whether neonatal jaundice associated with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency commences either in utero or in the immediate postnatal period and whether this perinatal bilirubinemia is the precursor of the subsequent neonatal jaundice and hyperbilirubinemia.
Mandatory serum total bilirubin (STB) determinations were performed within 3 hours of birth, to reflect the in utero state (first STB), and on the third day of life (second STB), with additional determinations as clinically necessary, on healthy, term male neonates at high risk for G-6-PD deficiency. G-6-PD Mediterranean mutation was determined by molecular means. G-6-PD-deficient neonates were compared with control participants. The relationship of first STB values to second STB and subsequent hyperbilirubinemia (defined as STB >/=256 micromol/L [15.0 mg/dL]) was determined.
Both first and second STB values were significantly higher in the G-6-PD-deficient neonates (n = 52) than in control participants (n = 166; 50 +/- 12 micromol/L vs 44 +/- 10 micromol/L [2.9 +/- 0.7 mg/dL vs 2.6 +/- 0.6 mg/dL] and 174 +/- 52 micromol/L vs 152 +/- 52 micromol/L [10.2 +/- 3.1 mg/dL vs 8.9 +/- 3.0 mg/dL] for the first and second STB values, respectively). The rate of rise between these 2 points was greater in the G-6-PD-deficient neonates (2.6 +/- 0.9 micromol/L/h vs 2.2 +/- 0.9 micromol/L/h [0.15 +/- 0.05 mg/dL/h vs 0.13 +/- 0.05 mg/dL/h). Sixteen (30.8%) of the G-6-PD-deficient neonates developed hyperbilirubinemia compared with 10 (6%) of control participants (relative risk: 5.11; 95% confidence interval: 2.47-10.56). In both G-6-PD-deficient and normal populations, first STB values correlated significantly with both second STB values and with those who subsequently developed hyperbilirubinemia. Significantly more G-6-PD-deficient neonates with a first STB value greater than or equal to the man developed hyperbilirubinemia compared with those with first STB less than the mean: 13 of 28 neonates versus 3 of 24 (relative risk: 3.7; 95% confidence interval: 1.20-11.51). This difference did not reach statistical significance in the control group.
Higher first STB values, an increased risk of hyperbilirubinemia in G-6-PD-deficient neonates with first STB value greater than or equal to the mean, and significant correlation between first STB values and second STB values and hyperbilirubinemia suggest that jaundice in G-6-PD-deficient neonates commences in the immediate perinatal period, most likely in utero. - 19664346
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Spectrum and outcome analysis of marked neonatal hyperbilirubinemia with blood group incompatibility. Chang Gung medical journal, [Go to PubMed]
- Blood group mismatch between a mother and newborn carries a substantial risk for neonatal hyperbilirubinemia and kernicterus. In the current study, we investigate the spectrum and outcome of marked neonatal hyperbilirubinemia with blood group incompatibility.
We retrospectively assessed a cohort of 413 neonates with peak total serum bilirubin (TSB) values > or = 20 mg/dL between 1995 and 2007. Those with a gestational age< 34 weeks, birth weight < 2000 grams or G6PD deficiency were excluded. A total of 83 subjects with blood group incompatibility were enrolled. Neonates with unknown etiology of hyperbilirubinemia (except breast milk feeding) were selected as the controls (n = 168). Kernicterus referred to classic neurological signs after follow up for more than 1 year.
The clinical symptoms of acute bilirubin encephalopathy included apnea (2.4%), tachypnea (6.0%), fever (1.2%), irritability (2.4%), lethargy (4.8%), seizures (1.2%) and poor feeding (19.3%). Hyperbilirubinemia was more severe among babies with Rh incompatibility than those with ABO incompatibility. After double-volume exchange transfusion, the TSB levels significantly decreased from 25.8 3.5 to 17.6 4.0 mg/dL. Using logistic regression analysis, we found neonates with blood group incompatibility more often had a reticulocyte count> 7 %, a hemoglobin value< 13 g /dL and a peak TSB at age< 3 days old than the controls (p < 0.01). Furthermore, kernicterus was more common in neonates with blood group incompatibility (9.8 %) than in the controls (0.0%) (p< 0.01).
This survey depicts the clinical profiles of babies with marked neonatal hyperbilirubinemia with blood group incompatibility. Neonates with blood group incompatibility often develop early-onset, hemolysis-mediated hyperbilirubinemia. Our findings show they are at great risk of kernicterus. - 12854374
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Neonatology in Singapore: the way we were, the way forward. Annals of the Academy of Medicine, Singapore, 2003 May [Go to PubMed]
- Singapore has a maternity hospital since 1924, but for many decades the newborns could only receive basic care. Neonatal and perinatal mortality rates were high. Marked improvement in neonatal care began from the 1980s when many neonatal departments were set up to provide intensive care. Improved socioeconomic status, better healthcare facilities, effective infection control, immunisation programmes and availability of potent antibiotics contributed to the decline of perinatal and neonatal mortality. Following the implementation of the glucose-6-phosphate dehydrogenase (G6PD) deficiency screening programme, severe neonatal jaundice and kernicterus were largely reduced. Exchange blood transfusions initiated in the 1960s and phototherapy in the 1970s had saved many babies. Kernicterus is almost not seen now. With more neonatal-trained staff, organised resuscitation teams, advances in respiratory management and better monitoring equipment, more babies have survived. Closer cooperation between obstetricians and eonatologists was a great leap forward towards perinatal medicine. Physicians should endeavour to reduce the incidence and prevalence of birth defects and metabolic errors. Perinatal asphyxia should be promptly detected and managed effectively, including neuroprotective strategies. There should be markers to predict the outcome of asphyxiated babies for decision-making. Neonatologists should be mindful of safe introduction of new technologies and rapid diagnostic techniques for infections, including group B streptococcal screening and chemoprophylaxis when required. Other current issues include prevention of major morbidities, preservation of brain function, improved neurodevelopmental outcome of premature babies, use of blood substitutes, optimal nutrition, fetal surgery, evidence-based medicine, better information systems, avoidance of medication errors, adequate sedation and pain relief of the baby, and the use of nitric oxide. One should bear in mind the need to enhance the neonatal intensive care enviroment, improve non-invasive monitoring and minimise invasive procedures. Physicians should prioritise neonatal care for their country and utilise less costly neonatal care. Ethical issues in neonatology that arise following advancement in neonatal care deserve attention. Advances in life sciences, such as the completion of the human genome project, cloning of tissues and organs, human stem cell research and technology, gene therapy, deoxyribonucleic acid vaccines and nanomedicine, should benefit neonatology.
- 11803427
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE The G6PD deficiency alert card causes hemolysis in G6PD-deficient subjects.
- Neonatal jaundice--traditional Chinese medicine approach. Journal of perinatology : official journal of the , 2001 Dec [Go to PubMed]
- Herbal treatment of neonatal jaundice (NNJ) has been practiced in China for a long time. Even to-date, a variety of herbal items, including"
Yin-chi"
(Artemisia),"
Huang-qi"
(Scutellaria),"
Da-huan"
(Rheum officinale),"
Gan-ca"
(Glycyrrhiza), and"
Huang-li"
(Coptis chinesis), are still being prescribed to jaundiced infants, often in combination with modern treatment such as phototherapy and exchange transfusion. Their efficacy has, however, not been tested by properly conducted randomised controlled trial. On the other hand, exposure to herbs either before or after birth has been suspected to be a cause of hemolysis and jaundice in the newborns. It is also widely believed in the Chinese community that a number of herbal items are hemolytic agents in infants deficient in the enzyme glucose-6-phosphate dehydrogenase (G6PD). The belief is so deep rooted that each infant detected to have G6PD deficiency by neonatal cord blood screening is given a G6PD deficiency alert card, which states that the child must avoid these herb items for life. In a cohort of 1008 mother-infant pairs, however, we have previously shown that there was no association between maternal herb consumption during pregnancy and the incidence or severity of neonatal hyperbilirubinemia in their offprings, including those who were deficient in G6PD. A thorough search of medical literature also fails to detect any evidence that any of the herbs stated in the G6PD deficiency alert card causes hemolysis in G6PD-deficient subjects. Thus, there are many misunderstandings and unsubstantiated beliefs about the relationship between herbal medicine and NNJ. Given the potential usefulness of Chinese traditional medicine, which has been practiced for almost 3000 years and is still gaining momentum in the modern days, extensive scientific studies to determine the therapeutic efficacy and potential harmful effects of the various herbal items are warranted. - 3767789
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- A significantly more severe degree of hyperbilirubinaemia was present in infants who were deficient in the enzyme glucose-6-phosphate dehydrogenase (G6PD).
- Neonatal jaundice: its prevalence in Chinese babies and associating factors. Australian paediatric journal, 1986 Aug [Go to PubMed]
- A prospective study of 1238 full-term Chinese newborn infants was conducted to determine the incidence of neonatal jaundice and associated factors. A significantly more severe degree of hyperbilirubinaemia was present in infants whose ABO blood group was incompatible with that of their mothers and those who were deficient in the enzyme glucose-6-phosphate dehydrogenase (G6PD). Among the remainder, clinical jaundice was present in 87% and 23.9% had a peak serum bilirubin (SB) concentration greater than 204 mumol/l. Factors that were found to have an association with a higher peak SB concentration included: male infants; elder siblings who had a history of neonatal jaundice; and breast-fed infants with or without supplementation with formula feed. Factors that were found to have no significant association with the peak SB concentration were: gestational age; birthweight; the mode of delivery of the infants; maternal consumption of Chinese herbs and syntocinon induction or augmentation of labour.
- 23616073
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Policy changes improved the Diagnosis of G6PD deficiency .
- Influence of changes in the evaluation of neonatal jaundice. American journal of perinatology, 2014 Mar [Go to PubMed]
- To study the influence of policy changes in the evaluation of neonatal hyperbilirubinemia on discharge process from the nursery. Changes included early assessment of risk factors by universal umbilical blood sampling for blood type, Coombs test, and glucose-6-phosphate dehydrogenase (G6PD) and universal noninvasive transcutaneous bilirubinometry at discharge.
The 1,569 newborns (≥ 36 weeks' gestation) admitted after the implementation of changes were compared with the 1,822 born before.
Policy changes improved the diagnosis of G6PD deficiency and ABO incompatibility and decreased the number of referrals from the community for jaundice follow-up. The average number of needlesticks per baby as well as the time required for the analysis of serum bilirubin levels on discharge day decreased. Changes did not significantly increase costs.
Changes seem to have improved the quality of medical care, including early identification of risk factors and better follow-up of neonatal hyperbilirubinemia with reduction of pain and increased efficiency. - 17148008
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Hyperbilirubinemia and bilirubin toxicity in the late preterm infant. Clinics in perinatology, 2006 Dec [Go to PubMed]
- Late preterm gestation is an important risk factor for the development of severe neonatal hyperbilirubinemia and kernicterus. An exaggerated hepatic immaturity contributes to the greater prevalence, severity, and duration of neonatal jaundice in late preterm infants. Breast milk feeding is almost uniformly present and large for gestational age status, male sex, and G6PD deficiency are over-represented among that cohort of late preterm infants with kernicterus. Attention to screning measures for jaundice in the newborn nursery, the provision of lactation support, parental education, timely postdischarge follow-up, and appropriate treatment when clinically indicated should help to reduce the risk of late preterm neonates developing severe neonatal jaundice or kernicterus.
- 7567338
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Hospital readmission due to neonatal hyperbilirubinemia. Pediatrics, 1995 Oct [Go to PubMed]
- Severe neonatal hyperbilirubinemia can occur without apparent reason in term healthy breast-fed infants and some develop kernicterus. The aim of our study was to assess the incidence of severe hyperbilirubinemia in term healthy newborns discharged from the hospital. From January 1 through December 31, 1994, 6705 infants were delivered at Bikur-Cholim and Misgav-Ladach Community Hospitals. All 1448 newborns discharged with a serum bilirubin level > 10.0 mg/dL were instructed to return to the hospital within 3 days for follow-up, as well as bilirubin determination. Twenty-one newborns with a bilirubin level > 18.0 mg/dL were identified and readmitted at mean +/- standard deviation (SD) 5.5 +/- 1.8 (range, 5 to 10 days of life). This represents 1.7% of the 1220 infants who returned for follow-up examination. Mean +/- SD serum bilirubin levels at readmission were 19.6 +/- 2.5 mg/dL. All but one of the infants were breast-fed. No cases of ABO incompatibility were found and two newborns were glucose-6-phosphate dehydrogenase (G6PD)-deficient. Sepsis work-up and direct Coomb's tests were negative in all cases. None had hemolysis or were found to have any cause for hyperbilirubinemia other than breast-feeding. Phototherapy was provided in all but two cases, and an exchange transfusion was performed in one case. Three additional infants, with bilirubin levels < 10 mg/dL at discharge, were readmitted due to hyperbilirubinemia. One was diagnosed with neonatal hepatitis. We conclude that, based on our study population, 0.36% of term infants may subsequently develop severe neonatal hyperbilirubinemia in the first postnatal week.(ABSTRACT TRUNCATED AT 250 WORDS)
- 17909678
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- A review of Orang Asli newborns admitted to a neonatal unit in a Malaysian general hospital. Singapore medical journal, 2007 Oct [Go to PubMed]
- The Orang Asli are the indigenous population in peninsular Malaysia and are in fact a diverse sub-ethnic group with different languages. Our aim was to collect data on Orang Asli newborns, from western and central Pahang, that were admitted to a general hospital with paediatric specialist services.
This is a retrospective study of all Orang Asli neonates admitted to the Neonatal Unit in Temerloh Hospital over a one-year period (2003).
There were 65 Orang Asli admissions out of a total of 1,543 admissions to our Neonatal Unit. The average birth weight was 2,569 g. The commonest indication for admission was neonatal jaundice secondary to glucose-6-phosphate dehydrogenase deficiency. Ten babies were ventilated, seven for prematurity and three for mild-moderate perinatal asphyxia. There were three deaths: a baby with a lethal congenital abnormality, one with congenital rubella syndrome with cardiac failure, and a preterm baby delivered at 28 weeks gestation, with late neonatal sepsis.
This is the first attempt to assess the health status of Orang Asli neonates in peninsular Malaysia. There are no published reports on the health status of this group of neonates. A larger multicentre study is needed to determine the exact health status of Malaysian Orang Asli newborns. - 1179794
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- A longitudinal study of red cell enzymes in infants of low birth weight. Zeitschrift für Kinderheilkunde, 1975 Sep 11 [Go to PubMed]
- A longitudinal study of red cell enzyme activity in newborn infants of low birth weight has been conducted over the first 2 months of life. The enzymes investigated are acetylcholinesterase (EC 3.1.3.7), an integral part of the red cell membrane and subnormal in ABO hemolytic disease of the newborn; and glucose-6-phosphate dehydrogenase (EC 1.1.1.49), an intracellularly-located, sex-linked enzyme, implicated in neonatal jaundice and of significance in drug-induced hemolytic anemias. Acetylcholinesterase activity, which is lower in normal full-term infants and in low birth weight infants than in adults, was further diminished during the initial weeks of life of the infants of low birth weight and the higher levels of activity, characteristic of adult red cells, had not appeared by 2 months of age. By contrast, red cell glucose-6-phosphate dehydrogenase activity, which is higher in full-term newborn infants and in infants of low birth weight than in adults, did not diminish as a function of age and the lower ault levels were not discernible by 2 months of life.
- 8787363
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Neonatal jaundice in Saudi newborns with G6PD Aures. Annals of tropical paediatrics, 1996 Mar [Go to PubMed]
- Sixty-five of 3261 (2%) Saudi neonates were found to be severely G6PD-deficient during a cord blood screening programme conducted from April to December, 1992. However, at the time of molecular studies, the blood samples were available from only 20 randomly selected children, aged from 1 to 6 years. DNA analyses showed that seven (three boys, four girls) of these 20 (35%) had G6PD Aures (nt 143 T - > C), a variant associated with favism which was recently reported in an Algerian. Twelve carried the G6PD Mediterranean (563 T) mutation, and in one child the mutation remained unidentified. The medical records of these children showed that all who had G6PD Aures, including a premature baby, were jaundiced during the 1st week of life, but only six full-term infants had moderate-to-severe hyperbilirubinaemia. Two of seven babies had seizures and one of these two developed kernicterus, in spite of timely blood transfusion.
- 19172333
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE Health education of the population at risk, especially pregnant women, and early referral at the primary health care level will reduce the burden of severe NNJ.
- Why we are still doing so many exchange blood transfusion for neonatal jaundice in Nigeria. World journal of pediatrics : WJP, 2009 Feb [Go to PubMed]
- Since exchange blood transfusion (EBT) is associated with serious complications, phototherapy has been made more powerful to reduce the need for EBT in the developed world. This study was undertaken to determine the indications for EBT in neonatal jaundice (NNJ) at our unit and what proportion of EBTs was possibly avoidable.
All the babies who had EBT for hyperbilirubinemia over a three-year period were included. Age, sex, weight, place of delivery, blood group of baby and mother, other investigations, management, and the outcome of the babies were recorded.
Of the 1686 babies admitted to the neonatal unit, 90 (5.3%) had EBT. Fourteen (15.6%) were inborn while 76 (84.4%) were out-born babies. Fifty-six (62.2%) babies were admitted primarily for NNJ while 34 (37.8%) developed NNJ during admission. Thirty-six (40.0%) of the babies had phototherapy for more than 24 hours prior to EBT either because they were of very low birthweight or NNJ was detected very early and therapy was so commenced. Sixty-eight (75.6%) babies had single EBT while the remaining 22 (24.4%) had two sessions of EBT. Factors associated with severe NNJ in babies requiring EBT included low birthweight (<2500 g, 44.4%), ABO incompatibility (30.0%), glucose-6-phosphate dehydrogenase deficiency (34.4%) and septicemia (26.1%). Twenty-seven (30.0%) of the neonates developed features of kernicterus: 26 before admission while 1 during admission; all except one were delivered outside the hospital.
The EBT rate in our center was high. With more effective phototherapy, EBT could be avoided in most of the babies who initially had phototherapy for more than 24 hours before EBT and repeated EBT sessions. Health education of the population at risk, especially pregnant women, and early referral at the primary health care level will reduce the burden of severe NNJ. - 12497642
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Our findings together with other preliminary data on the presence of the Mediterranean variant in this region provide evidence of strong Arab influence in the Malay Archipelago.
- Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays. Human mutation, 2003 Jan [Go to PubMed]
- We performed DNA analysis using cord blood samples on 86 male Malay neonates diagnosed as G6PD deficiency in the National University of Malaysia Hospital by a combination of rapid PCR-based techniques, single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing. We found 37.2% were 871G>A (G6PD Viangchan), 26.7% were nt 563 C>T (G6PD Mediterranean) and 15.1% were 487G>A (G6PD Mahidol) followed by 4.7% 1376G>T (G6PD Canton), 3.5% 383T>C (G6PD Vanua Lava), 3.5% 592C>T (G6PD Coimbra), 2.3% 1388G>A (G6PD Kaiping), 2.3% 1360C>T (G6PD Union), 2.3% 1003G>A (G6PD Chatham), 1.2% 131C>G (G6PD Orissa) and 1.2% 1361G>A (G6PD Andalus). Seventy-one (82.6%) of the 86 G6PD-deficient neonates had neonatal jaundice. Fifty seven (80%) of the 71 neonates with jaundice required phototherapy with only one neonate progressing to severe hyperbilirubinemia (serum bilirubin >340 micromol/l) requiring exchange transfusion. There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin level, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean number of days of phototherapy between the three common variants. In conclusion, the molecular defects of Malay G6PD deficiency is heterogeneous and G6PD Viangchan, Mahidol and Mediterranean account for at least 80% of the cases. Our findings support the observation that G6PD Viangchan and Mahidol are common Southeast Asian variants. Their presence in the Malays suggests a common ancestral origin with the Cambodians, Laotians and Thais. Our findings together with other preliminary data on the presence of the Mediterranean variant in this region provide evidence of strong Arab influence in the Malay Archipelago.
- 19347075
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Chinese ethnic origin was an independent risk factor for hyperbilirubinaemia and phototherapy.
- Differential risk for early breastfeeding jaundice in a multi-ethnic Asian cohort. Annals of the Academy of Medicine, Singapore, 2009 Mar [Go to PubMed]
- To explore the relationship between ethnic origin and mode of feeding with early neonatal jaundice, we examined maternal and neonatal risk factors for hyperbilirubinaemia in a multi-ethnic Asian cohort of healthy term newborns.
This is an observational cohort study in a maternity ward serving a multi-ethnic cosmopolitan community. The relationship between hyperbilirubinaemia (bilirubin >or=150 mmol/L before 48 hours to 72 hours after birth), ethnic origin, weight loss after birth, need for phototherapy, and other factors were examined. Bivariate comparisons and binary logistic regression were used to investigate the relationship between hyperbilirubinaemia/phototherapy with maternal and neonatal risk factors.
A consecutive group of 1034 neonates (56% Chinese, 24% Indian subcontinent, 9% Malay) with birth weights >or=2500 g was investigated. Overall factors that contributed significantly to hyperbilirubinaemia/phototherapy were gestational age, Chinese ethnic origin, weight loss of >or=7%, vaginal delivery, glucose-6-phosphate-dehydrogenase (G6PD) deficiency, breastfeeding and ABO incompatibility. Chinese neonates who were totally breastfed had a higher risk for jaundice [adjusted odds ratio (OR) = 1.64; 95% confidence intervals (CI), 1.11- 2.44; P <0.014], and phototherapy (adjusted OR = 2.75; 95% CI 1.77-4.27; P <0.001) compared to those supplemented with, or totally formula fed. In contrast, the risk of jaundice for non- Chinese infants did not differ according to the mode of feed. Although weight loss as a whole increased the risk for jaundice (adjusted OR = 1.43; 95%CI, 1.03-1.99; P = 0.031), jaundice in Chinese neonates was not due to ineffective breastfeeding because both Chinese and non-Chinese breastfed infants lost similar weights.
Chinese ethnic origin was an independent risk factor for hyperbilirubinaemia and phototherapy. Breastfeeding was not a risk factor for hyperbilirubinaemia/phototherapy in non-Chinese Asian infants. - 22407023
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- We emphasize that investigating both the UGT1A gene and G6PD activity is the most reliable way to make a correct differential Diagnosis.
- Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome. Molecular medicine reports, 2012 Jun [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a recessive X-linked trait, is the most common enzyme deficiency in the world. The most devastating clinical consequence of this deficit is severe neonatal jaundice, which results in sensorineural deficit, and severe haemolytic anemia. However, patients may be asymptomatic. The most common clinical sign is hyperbilirubinemia (h↑), that is also related to Gilbert's syndrome, a condition associated with the promoter polymorphism of the UDP-glucuronosyltransferase 1 (UGT1A1) gene. The aim of this study was to underline (as is usually done by DNA molecular analysis) to detect and to clarify the genetic deficiency that is the reason of the disorder in question. In this study, different techniques were applied to analyse a family of four individuals presenting with hyperbilirubinemia: bilirubinic dosage, electrophoresis and enzymatic activity dosage of G6PD; molecular analysis of the UGT1A promoter to detect a thymine-adenine (TA) insertion, that causes the[A(TA)7TAA] mutation. The results showed that in certain cases, the presence of hyperbilirubinemia is not only associated with G6PD deficiency, but may be caused by the co-presence of a mutation in the UGTA1 promoter related to Gilbert's syndrome. As being affected by these two conditions predisposes to adverse effects towards certain drug treatments, it is advisable to study the UGTA1 gene before prescribing drugs for specific antineoplastic or retroviral treatment. We emphasize that investigating both the UGT1A gene and G6PD activity is the most reliable way to make a correct differential diagnosis.
- 7626527
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Results of this double prospective study were compared with the previous findings in this and other centres in Nigeria.
- Neonatal jaundice in Zaria, Nigeria--a second prospective study. West African journal of medicine, [Go to PubMed]
- Of the 587 neonates born in ABUTH, Zaria, Nigeria and successfully followed up, 99 were clinically jaundiced (16.9%). Of these, only 38 (38%) had significant hyperbilirubinaemia (serum bilirubin above 170 umol/L). During the same period, 279 neonates were admitted through Emergency Paediatric Unit (EPU) of whom 70 (25%) were jaundiced and 64 (95%) of them had serum bilirubin above 170 umol/L. Jaundice was more severe and the incidence of kernicterus higher in babies born outside the hospital than in those born in hospital and periodically followed up. The incidence of kernicterus was 20.3% and 2.6% respectively. The pattern of aetiological factors was similar in the two groups of jaundiced neonates. Septicaemia (50%) and G6PD deficiency (40%) were the major aetiological factors. Exposure to traditional herbal medications, oxytocin induced/augmented labour, cephalhaematoma and tribal incidences did not play statistically significant roles. Jaundice due to Rh-incompatibility was not encountered. Results of thi double prospective study were compared with the previous findings in this and other centres in Nigeria.
- 10916676
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The three-dimensional structure of G6PD shows a classical dinucleotide binding domain and a novel beta + alpha domain involved in dimerization.
- Glucose-6-phosphate dehydrogenase deficiency. research. Clinical haematology, 2000 Mar [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) is expressed in all tissues, where it catalyses the first step in the pentose phosphate pathway. G6PD deficiency is prevalent throughout tropical and subtropical regions of the world because of the protection it affords during malaria infection. Although most affected individuals are asymptomatic, there is a risk of neonatal jaundice and acute haemolytic anaemia, triggered by infection and the ingestion of certain drugs and broad beans (favism). A rare but more severe form of G6PD deficiency is found throughout the world and is associated with chronic non-spherocytic haemolytic anaemia. Many deficient variants of G6PD have been described. DNA sequence analysis has shown that the vast majority of these are caused by single amino acid substitutions. The three-dimensional structure of G6PD shows a classical dinucleotide binding domain and a novel beta + alpha domain involved in dimerization.
- 9924569
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Significant differences in the distribution of diagnostic categories were found among the major ethnic groups in the population studied.
- Epidemiology of clinical hyperbilirubinaemia in Al Ain, United Arab Emirates. Annals of tropical paediatrics, 1998 Jun [Go to PubMed]
- All infants born at Al Ain Hospital, United Arab Emirates between 1 January and 30 June 1995 who developed clinically relevant hyperbilirubinaemia defined as jaundice requiring investigation and treatment were prospectively studied. Of the 2300 live births, 85 (3.7%) developed hyperbilirubinaemia. Of these, 22 were premature, 22 had ABO haemolytic disease of the newborn, eight had G6PD deficiency (Mediterranean), seven had breast-milk jaundice, five were born to mothers with diabetes mellitus and one had Rh incompatibility. No specific factor was identified in 20 (24%). Significant differences in the distribution of diagnostic categories were found among the major ethnic groups in the population studied. This first study of the epidemiology of clinically relevant hyperbilirubinaemia in this community identified locally relevant risk factors and highlighted areas of health care which, if modified, might reduce the incidence of hyperbilirubinaemia.
If untreated, severe unconjugated hyperbilirubinemia is neurotoxic. Management of the condition therefore includes preventing serum bilirubin from reaching toxic levels. Identifying infants at risk of developing severe hyperbilirubinemia and early intervention have reduced levels of morbidity and mortality associated with bilirubin encephalopathy. The incidence of neonatal jaundice and the etiological factors associated with hyperbilirubinemia vary by locale. All infants born at Al Ain Hospital, United Arab Emirates, between January 1 and June 30, 1995, who developed clinically relevant hyperbilirubinemia defined as jaundice requiring investigation and treatment were prospectively studied. 85 (3.7%) of the 2300 live births developed hyperbilirubinemia. Of those, 22 were premature, 22 had ABO hemolytic disease of the newborn, 8 had G6PD deficiency (Mediterranean), 7 had breast milk jaundice, 5 were born to mothers with diabetes mellitus, and 1 had Rh incompatibility. No specific factor was identified in 20 (2%) infants. Significant differences in the distribution of diagnostic categories were found among the major ethnic groups in the population studied. - 11445808
- G6PD
- downregulation
- Complication; Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Glucose-6-phosphate dehydrogenase-deficient heterozygotes may be susceptible to the Complications of this enzyme deficiency.
- Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes. The Journal of pediatrics, 2001 Jul [Go to PubMed]
- Two premature female infants had severe hyperbilirubinemia caused by hemolysis. Both neonates were heterozygotes for the glucose-6-phosphate dehydrogenase Mediterranean mutation as determined by DNA analysis. Glucose-6-phosphate dehydrogenase-deficient heterozygotes may be susceptible to the complications of this enzyme deficiency.
- 11731664
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Glucose-6-phosphate dehydrogenase deficiency has been extensively studied in carefully conducted clinical trials the results of which have been reported earlier.
- Sn-Mesoporphyrin interdiction of severe hyperbilirubinemia in Jehovah's Witness newborns as an alternative to exchange transfusion. Pediatrics, 2001 Dec [Go to PubMed]
- The religious convictions of parents who are Jehovah's Witness adherents lead them to reject the use of exchange transfusions as therapy for severe hyperbilirubinemia in newborns in whom intensive phototherapy has failed to control this problem. Consequently, physicians caring for such infants may be obliged to initiate legal action to compel use of the procedure when severe hyperbilirubinemia not sufficiently responsive to phototherapy warrants an exchange transfusion. Our goal was to determine if we could use the potent inhibitor of bilirubin production, Sn-Mesoporphyrin (SnMP), to resolve the troubling medical-legal issues in such situations in 2 infants with hemolytic disease of the newborn who required exchange transfusions for severe hyperbilirubinemia but whose Jehovah's Witness parents rejected the procedure. SnMP was administered in a single dose, as in previous studies, at the time when exchange transfusion would have been initiated and plasma bilirubin levels were monitored at close intervals therafter.
SnMP is a potent inhibitor of heme oxygenase, the rate-limiting enzyme in catabolism of heme to bilirubin. We found in earlier studies that in single doses of 6 micromol/kg birth weight, SnMP is extremely effective in moderating the course of hyperbilirubinemia and in eliminating the need for supplemental phototherapy in jaundiced newborns. In the 2 cases described, a single dose of SnMP (6 micromol/kg birth weight) was administered intramuscularly to severely jaundiced infants with immune hemolysis at a time when clinical circumstances dictated the need for exchange transfusion. CASE 1: This patient was a preterm male infant (gestational age: 35 5/7 weeks; birth weight: 2790 g) whose plasma bilirubin concentration (PBC) at 1 hour after birth was 5.0 mg/dL. Despite intensive phototherapy with 3 banks of lights and 1 biliblanket, the PBC increased steadily with no diminution in the rate of increase for 75 hours. In view of the problems of immune hemolysis, and prematurity, and the inability of phototherapy tostop progression of hyperbilirubinemia, a decision to carry out an exchange transfusion was made; the decision was, however, rejected by the Jehovah's Witness parents. Pending legal action to compel use of the procedure, a request to this (Rockefeller) laboratory for SnMP was made; its use was approved by the Food and Drug Administration; and the inhibitor was delivered to the physician-in-charge (D.P.M.) in Sioux Falls, South Dakota. The single dose of SnMP was administered to the infant at 75 hours after birth; the course of hyperbilirubinemia before and after the use of the inhibitor is shown in Fig 1. [figure: see text]. CASE 2: This female term infant (gestational age: 38-39 weeks; birth weight: 4140 g) with immune hemolysis was delivered by cesarean section and because of problems related to meconium aspiration required helicopter transfer to the Special Care Nursery in Abilene, Texas, where 10 hours after birth the first PBC was determined to be 18.0 mg/dL. Double-bank phototherapy plus a biliblanket as initiated; a third bank of lights was later ordered. The PBC fluctuated in the ensuing 2 days between 13.8 to 25.8 mg/dL during which suggestive clinical signs of possible bilirubin encephalopathy became manifest. In view of the clinical circumstances and the continued severe hyperbilirubinemia, permission for a double-exchange transfusion was requested. The parents, who were Jehovah's Witness adherents, refused the procedure. While preparing legal action to compel use of the exchange, a request was made to this (Rockefeller) laboratory for use of SnMP to attempt control of hyperbilirubinemia. With FDA approval, the SnMP was delivered to the attending neonatologist (J. R. M.) in Abilene and administered in a single dose (6 micromol/kg birth weight) at 56 hours after birth when the PBC was 19.5 mg/dL. The course of bilirubinemia before and after SnMP use is shown in Fig 2. [figure: see text].
The use of SnMP to moderate or prevent the development of severe hyperbilirubinemia in newborns (preterm, near-term, term with high PBCs [15-18 mg/dL], ABO-incompatibility; glucose-6-phosphate dehydrogenase deficiency) has been extensively studied in carefully conducted clinical trials the results of which have been reported earlier. This inhibitor of bilirubin production has demonstrated marked efficacy in moderating the course of hyperbilirubinemia in all diagnostic groups of unconjugated neonatal jaundice. The 2 cases described in this report confirmed the efficacy of SnMP in terminating progression of hyperbilirubinemia in infants in whom phototherapy had failed to sufficiently control the problem and whose parents, for religious reasons, would not permit exchange transfusions. Interdiction of severe hyperbilirubinemia by inhibiting the production of bilirubin with SnMP can be an effective alternative to the use of exchange transfusion in the management of severe newborn jaundice that has not responded sfficiently to light treatment to ease concern about the development of bilirubin encephalopathy. - 21063220
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- In this case, it is presumed that infection and administration of anti-inflammatory agents induce the hemolytic episode and that hyperytokinemia deteriorates the disease condition.
- A new glucose-6-phosphate dehydrogenase deficiency variant, G6PD Mizushima, showing increases in serum ferritin and cytosol leucine aminopeptidase levels. Journal of pediatric hematology/oncology, 2011 Jan [Go to PubMed]
- We made a diagnosis of glucose-6-phosphate dehydrogenase (G6PD) deficiency with a new mutation of 848A→G (exon 8) in a 16-year-old male patient presenting with severe hemolysis. He was administered a diclofenac sodium suppository (50 mg) at the time of first visit to our hospital because of pyrexia. In the acute phase, pyrexia, severe general fatigue, lumbar back pain, hemoglobinuria, and jaundice developed. Laboratory blood examinations showed hemolysis, and remarkable increases in serum ferritin and cytosol leucine aminopeptidase levels. Serum interleukin-6 and interferon-γ levels were also increased. No liver injury was found. He had neonatal jaundice persisting over 3 weeks. He did not have a history of chronic hemolysis or hyperbilirubinemia. Increases in serum ferritin or cytosol leucine aminopeptidase levels in G6PD-deficient patients were not reported earlier. In this case, it is presumed that infection and administration of anti-inflammatory agents induce the hemolytic episode and that hyperytokinemia deteriorates the disease condition.
- 3227552
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Mean bilirubin in cordblood, however, was not found to be significantly higher in severe deficient neonates of African, Asian and Mediterranean descent.
- Glucose-6-phosphate dehydrogenase deficiency in ethnic minorities in The Netherlands. Tropical and geographical medicine, 1988 Oct [Go to PubMed]
- The distribution of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in ethnic minorities in the Netherlands was studied in a random sample of 668 healthy pregnant women and 754 healthy full term neonates. The overall prevalence of G-6-PD deficiency was 6.6% in males and 5.2% in females. Highest frequencies were found in sub-Saharan blacks. The hematological data in severe deficient women of African descent suggest slight hemolysis in the first trimester of pregnancy. Mean hemoglobin concentrations in pregnant women and neonates of African descent were lower as compared to hemoglobin concentrations in persons of Asian or Mediterranean origin. G-6-PD deficiency was found to be the only cause of neonatal jaundice in 6% of the non-Caucasian neonates who underwent exchange transfusion for severe neonatal hyperbilirubinaemia. Mean bilirubin in cordblood, however, was not found to be significantly higher in severe deficient neonates of African, Asian and Mediterranean descent.
- 22963789
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- A mechanism which could account for the defective activity is discussed.
- Pro)] and overview of the spectrum of mutations in Tunisia. diseases, 2013 Feb [Go to PubMed]
- We screened 423 patients referred to our laboratory after hemolysis triggered by fava beans ingestion, neonatal jaundice or drug hemolysis. Others were asymptomatic but belonged to a family with a history of G6PD deficiency. The determination of enzymatic activity using spectrophotometric method, revealed 293 deficient (143 males and 150 females). The molecular analysis was performed by a combination of PCR-RFLP and DNA sequencing to characterize the mutations causing G6PD deficiency. 14 different genotypes have been identified : G6PD A(-) (376A>G;202G>A) (46.07%) and G6PD Med (33.10%) were the most common variants followed by G6PD Santamaria (5.80%), G6PD Kaiping (3.75%), the association [c.1311T and IVS11 93c] (3.75%), G6PD Chatham (2.04%), G6PD Aures (1.70%), G6PD A(-) Betica (0.68%), the association [ 376G;c.1311T;IVS11 93c] (0.68%), G6PD Malaga, G6PD Canton and G6PD Abeno respectively (0.34%). Two novel missense mutations were identified (c.920A>C: p.307Gln>Pro and c.968T>C: p.323 Leu>Pro). We designated these two class III variants as G6PD Tunis and G6PD Nefza. A mechanism which could account for the defective activity is discussed.
- 12476860
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The type of variant causing anaemia and suggestions for prevention in marriage group are outlined.
- Frequency of glucose 6 phosphate dehydrogenase deficiency and related hemolytic anemia in Riyadh, Saudi Arabia. Journal of Ayub Medical College, Abbottabad : JAMC, [Go to PubMed]
- Glucose 6 Phosphate dehydrogenase deficiency is present in over 400 million people world wide. It is more common iin tropical and subtropical countries and is one of the important causes of hemolytic anemia and neonatal jaundice. We studied the frequency of glucose-6-phosphate dehydrogenase deficiency and associated complications in Central Region (Riyadh) of Saudi Arabia.
A total of 1740 subjects referred by Ministry of Interior and different hospitals in Riyadh were investigated for glucose-6-phosphate dehydrogenase deficiency. Glucose 6 phosphate dehydrogenase activity was determined by a screening test described by Beutler.
Out of these, 106 (6.09%) subjects were deficient. The subjects were divided into marriage and hospital groups. In marriage group deficiency was 4.1% while in hospital group it was 13.3%. In 54 glucose-6-phosphate dehydrogenase deficient patients red blood cell count and haemoglobin levels were determined to see the degree of anaemia. Sixty one percent (61%) had anaemia. In hospital patients 8% patients had severe anaemia while in marriage group no patients had severe anaemia. However mild anaemia was seen in 25% subjects in marriage group.
In conclusion the study indicates that glucose-6-phosphate dehydrogenase deficiency is common in the central region of Saudi Arabia and a lot of patients present with haemolytic episodes. The haemolytic crisis however is not related to the intake of fava beans. The type of variant causing anaemia and suggestions for prevention in marriage group are outlined. - 10699105
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- To assess the validity of predischarge serum bilirubin values in determining or predicting hyperbilirubinemia in glucose-6-phosphate dehydrogenase (G-6-PD)-deficient neonates, and to facilitate appropriate discharge planning.
- Predischarge bilirubin screening in glucose-6-phosphate dehydrogenase-deficient neonates. Pediatrics, 2000 Mar [Go to PubMed]
- To assess the validity of predischarge serum bilirubin values in determining or predicting hyperbilirubinemia in glucose-6-phosphate dehydrogenase (G-6-PD)-deficient neonates, and to facilitate appropriate discharge planning.
Serum total bilirubin values were determined between 44 and 72 hours of life in a cohort of term, healthy neonates at high-risk for G-6-PD deficiency but with no other risk factors for hyperbilirubinemia. Percentile-based bilirubin nomograms were constructed for G-6-PD-deficient infants and normal infants according to age at sampling. The incidence of hyperbilirubinemia (serum bilirubin value > or =256 micromol/L [15 mg/dL]) for each group was determined according to the percentiles for that group.
In both G-6-PD-deficient neonates (n = 108) and control neonates (n = 215) with serum bilirubin values <50th percentile for age, the incidence of hyperbilirubinemia was low in the G-6-PD-deficient neonates, with no measurable incidence in the controls. The incidence of hyperbilirubinemia became clinically consequential, and significantly higher in the G-6-PD-deficient groups, when the percentiles were > or =50: for those in the 50% to 74% range the incidence was moderate (23%) for the G-6-PD-deficient and small (7%) for the control infants (relative risk, 3.29; 95% confidence interval, 1.01-10.67). Among those infants > or =75th percentile, 82% of the G-6-PD-deficient infants, compared with 25% of the control infants, were either already hyperbilirubinemic at the time of screening or subsequently developed hyperbilirubinemia (relative risk, 3.23; 95% confidence interval, 1.99-5.24).
Timed, predischarge serum bilirubin screening can be used to identify G-6-PD-deficient neonates at low, intermediate, or high-risk of developing severe neonatal hyperbilirubinemia, and thus offer a selective approach to the discharge and follow-up surveillance of these infants. - 823756
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- It is suggested that this variant should be named G-6-PD Ferrara.
- Glucose-6-phosphate dehydrogenase Ferrara. A new variant of g-6-PD identified in Northern Italy. Acta haematologica, 1976 [Go to PubMed]
- A new variant of glucose-6-phosphate dehydrogenase (G-6-PD) has been discovered in Northern Italy, in the district of Ferrara. This variant is characterized by high decrease of red blood cell enzyme activity (less than 5% of normal), high affinity for G-6-P and NADP, increased utilization of deamino-NADP and 2-deoxy-G-6-P, and faster electrophoretic mobility in the buffer systems commonly used for the classification of the G-6-PD variants. The new G-6-PD type was never associated with clinical manifestations in any cases except neonatal jaundice in some of the newborns with this enzyme deficiency. The frequency of the new variant in the Ferrara district indicates that it has probably appeared in this area by mutation some centuries ago. It is suggested that this variant should be named G-6-PD Ferrara.
- 1418767
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Four cases of G6PD deficiency which were first noticed in Korea are investigated with their clinical features.
- Glucose-6-phosphate dehydrogenase deficiency--report of 4 cases. Journal of Korean medical science, 1992 Mar [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme disorder and more than 200 million people have a deficiency in this enzyme. It is a globally important cause of neonatal jaundice and causes life-threatening hemolytic crisis in childhood. At later ages, certain drugs such as antimalarials, and fava beans cause hemolysis among G6PD deficiency patients. The frequency and severity is influenced by genetic and cultural factors. It is common in Mediterranean, African, and some East Asian populations but rare in Korea. Four cases of G6PD deficiency which were first noticed in Korea are investigated with their clinical features.
- 12737938
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The association of G6PD Sumaré and G6PD A- gave rise to a very mild chronic hemolysis, and the red cell population containing G6PD A- is probably enough to protect against severe chronic hemolysis.
- Mild hemolysis in a girl with G6PD Sumaré (class I variant) associated with G6PD A-. diseases, [Go to PubMed]
- In the present study we describe the clinical and laboratory features of a female child, a compound heterozygote for glucose-6-phosphate dehydrogenase (G6PD) Sumaré (1292T-->G) and African variants (202G-->A). G6PD Sumaré is a variant causing chronic nonspherocytic hemolytic anemia. The child had neonatal jaundice 2 days after birth and needed phototherapy for 8 days. Since then, she has not had episodes of dark urine or new episodes of jaundice. She has not had hemolytic crises in spite of five respiratory infections and antibiotics administration. Laboratory data showed a reticulocytosis (5.6%) without anemia and serum unconjugated bilirubin at the upper limit of the normalcy. No hemoglobin and hemosiderin in the urine were detected. G6PD activity at 37 degrees C was 1.15 UI/g Hb and G6PD cellulose acetate electrophoresis at pH 9.0 revealed two bands, in equal amounts, with normal and faster migration, respectively. She was homozygous for the normal (TA)6(TA)6 repeat in the UGT1A1 promoter. We conclude that the association of G6PD Sumaré and G6PD A- gave rise to a very mild chronic hemolysis, and the red cell population containing G6PD A- is probably enough to protect against severe chronic hemolysis.
- 10645652
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- They should be taken into account in the national health programmes, specially in the countries with high Prevalence rates.
- [Glucose-6-phosphate dehydrogenase deficiency and hereditary hemolytic anemia]. Annali dell'Istituto superiore di sanità, 1999 [Go to PubMed]
- G6PD deficiency is the most common enzymopathy in the world. The highest frequency values are found in tropical Africa, in the Middle East, in some areas of the Mediterranean, in tropical and sub-tropical Asia and in Oceania. This genetic defect shows sex linked inheritance and a marked heterogeneity. At least 400 abnormal variants with different biochemical characteristics and about 100 diverse mutations have been identified. In most cases the phenotypic expression is a marked decrease in erythrocyte G6PD activity. The most common clinical consequences are neonatal jaundice and sporadic haemolytic crises caused by a number of drugs, by infections or by ingestion of fava beans. A few cases of chronic non-spherocytic haemolytic anaemia associated with rare molecular variants have been reported. Early diagnosis, education and epidemiologic surveillance have been proved to be cornerstones in the prevention of the haemolytic disease. Therefore they should be taken into account in the national health programmes, specially in the countries with high prevalence rates.
- 2732634
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The semiquantitative method is a reliable as the assay method.
- Neonatal jaundice and glucose-6-phosphate dehydrogenase deficiency. Journal of the Medical Association of Thailand = C, 1989 Jan [Go to PubMed]
- Ninety-six newborn aged 0-7 days with serum bilirubin of more than 15 mg/dl were studied for the G6PD status using semiquantitative and the assay method. It was found that the result of the 2 methods corresponded. The prevalence of G6PD deficiency was 12.4 per cent (there were 11 boys and one girl). Among the G6PD deficiency and the normal group, there was no difference in the age of the patient, onset of jaundice, bilirubin level, hematocrit status and the reticulocyte count. The semiquantitative method is a reliable as the assay method.
- 16708139
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- This study was undertaken to determine the frequency and investigate the etiology of extreme hyperbilirubinemia .
- Extreme hyperbilirubinemia in newborn infants. Clinical pediatrics, 2006 Apr [Go to PubMed]
- This study was undertaken to determine the frequency and investigate the etiology of extreme hyperbilirubinemia (total serum bilirubin [TSB]>or=25 mg/dL [428 micromol/L]) in newborns admitted to a neonatal intensive care unit in southern Turkey. The charts of 93 term and near-term infants admitted with TSB levels of 25 mg/dL (428 micromol/L) or greater in the first 30 days after birth were retrospectively reviewed. During the 4.5-year study period, 774 infants were admitted to our unit with neonatal jaundice. Ninety-three (12%) of these infants had TSB levels of 25 mg/dL (428 micromol/L) or greater. The mean TSB level in the 93 cases was 30.1+/-5.7 mg/dL (514.7+/-97.5 micromol/L), and the peak levels ranged from 25.0 to 57.4 mg/dL (428-981.5 micromol/L). Thirty-three (35.5%) of the 93 babies had TSB levels of 30 mg/dL (513 micromol/L) or greater. Eighty-nine of 93 infants were being exclusively breast-fed. Nineteen babies were isoimmunized, 7 were bacteremic, 2 of the 39 babies tested for glucose-6-phosphate dehydrogenase had this enzyme deficiency, and 1 of the 71 infants tested for thyroid function had hypothyroidism. No cause for extreme hyperilirubinemia was found in 61 (65.6%) cases.
- 18564698
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The results show that clofibrate induces a faster decline in serum total bilirubin level, a shorter duration of phototherapy, and hospitalization with no side effects in full-term G6PD deficient neonates with jaundice.
- Efficacy of clofibrate on severe neonatal jaundice associated with glucose-6-phosphate dehydrogenase deficiency (a randomized clinical trial). The Southeast Asian journal of tropical medicine a, 2008 May [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency may cause severe hyperbilirubinemia with bilirubin encephalopathy unless intervention is initiated. The aim of this study was to assess the efficacy of clofibrate in full term G6PD deficient neonates with jaundice. A randomized clinical trial study was performed in two groups of full-term G6PD deficient jaundiced neonates (clofibrate treated group, n = 21; control group, n = 19). Infants in the clofibrate group received a single oral dose of 100 mg/kg clofibrate, whereas control group received nothing. Both groups were treated with phototherapy. Serum total and direct bilirubin levels were measured at the onset of treatments, 16, 24 and 48 hours later. On enrollment, the mean total serum bilirubin (TSB) level in the clofibrate treated group was 18.40 +/- 2.41 and in the control group was 17.49 +/- 1.03 (p = 0.401). At 16, 24 and 48 hours of treatment, the mean TSB in the clofibrate group were 15.2 +/- 1.9, 12.6 +/- 2.4, and 10.1 +/- 2.4 and in the control goup were 16.5 +/- 1.2, 13.3 +/- 2.2 and 11.4 +/- 2.4, respectively (p = 0.047). At 48 hours, 7 (33%) cases in the clofibrate group and one (5%) case in the control group were discharged with a TSB < 10 mg/dl (p = 0.031). No side effects were observed on serial examinations during hospitalization, or on the 1st and 7th days after discharge. The results show that clofibrate induces a faster decline in serum total bilirubin level, a shorter duration of phototherapy, and hospitalization with no side effects in full-term G6PD deficient neonates with jaundice.
- 14226101
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Seven male newborns of Chinese, Greek and Italian origin presented with severe hemolytic jaundice due to red cell glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
- RED CELL GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY--A NEWLY RECOGNIZED CAUSE OF NEONATAL JAUNDICE AND KERNICTERUS IN CANADA. Canadian Medical Association journal, 1964 Dec 12 [Go to PubMed]
- Seven male newborns of Chinese, Greek and Italian origin presented with severe hemolytic jaundice due to red cell glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. In five, the hemolysis was precipitated by inhalation of mothball vapours in the home. Kernicterus was evident upon admission in six infants and was fatal in four of these.G-6-PD deficiency should be suspected as a cause of jaundice in all full-term male infants of these ethnic groups. The diagnosis can be confirmed in any hospital by the methemoglobin reduction test. In areas similar to Toronto, Canada, where these high-risk ethnic groups prevail, the following measures are recommended: (1) detection of G-6-PD deficient newborns by screening cord bloods of all infants of these ethnic groups; (2) protection of affected infants from potentially hemolytic agents such as naphthalene, certain vitamin K preparations, and sulfonamides; and (3) observation of serum bilirubin levels to assess the need for exchange transfusion for hyperbilirubinemia.
- 15906715
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The most prevalent mutation identified differs from country to country, thus suggesting independent mutational events of the G6PD gene.
- Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries. The Southeast Asian journal of tropical medicine a, 2003 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is common in malaria endemic regions and is estimated to affect more than 400 million people worldwide. Deficient subjects are mostly asymptomatic but clinical manifestations range from neonatal jaundice due to acute hemolytic anemia to chronic non-spherocytic hemolytic anemia. To date, biochemical parameters allowed more than 400 different G6PD variants to be distinguished thereby suggesting a vast genetic heterogeneity. So far, only a small portion of this heterogeneity has been confirmed at the DNA level with the identification of about 90 different point mutations in the G6PD coding sequence. To determine the molecular background of G6PD deficiency in Southeast Asian countries, we conducted molecular analyses of G6PD patients from the Philippines, Malaysia, Singapore, Vietnam and Indonesia. The most prevalent mutation identified differs from country to country, thus suggesting independent mutational events of the G6PD gene.
- 9848766
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Carboxyhemoglobin determination performed on one of the infants reflected ongoing hemolysis.
- Favism by proxy in nursing glucose-6-phosphate dehydrogenase-deficient neonates. Journal of perinatology : official journal of the , [Go to PubMed]
- Two nursing neonates deficient in glucose-6-phosphate dehydrogenase developed severe hyperbilirubinemia despite phototherapy. Mothers of both the infants had recently eaten fava beans. The hemolytic triggers found in fava beans may have been absorbed by the mothers and excreted in their breast milk. Carboxyhemoglobin determination performed on one of the infants reflected ongoing hemolysis.
- 2620958
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Even with all the screening tests, 11 of 29 neonates (37.9%) with mild G6PD deficiency were not detected showing the limitation of these tests.
- neonatal hyperbilirubinaemia. The Indian journal of medical research, 1989 Aug [Go to PubMed]
- Seventy four neonates with hyperbilirubinaemia and 47 non-jaundiced (control) neonates were studied for evidence of G6PD deficiency by spectrophotometric assays and 3 screening tests viz., ascorbate cyanide test, methaemoglobin reduction test and fluorescent spot test. The incidence of G6PD deficiency was significantly higher (P less than 0.001) in the hyperbilirubinaemic neonates (35.1%) as compared to non-jaundiced neonates (6.4%). The G6PD levels in the hyperbilirubinaemic neonates were significantly lower than in the non-jaundiced neonates (P less than 0.05). In 9(12.2%) hyperbilirubinaemic neonates G6PD deficiency was present, without evidence of any other factor known to cause hyperbilirubinaemia. Results of screening tests were essentially similar. However, even with all the screening tests, 11 of 29 neonates (37.9%) with mild G6PD deficiency were not detected showing the limitation of these tests.
- 8682393
- G6PD
- downregulation
- Complication; Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Most Complications occurred in preterm infants and those severely ill. All Complications were treated immediately and there were no sequelae.
- [Complications of exchange transfusion in term and preterm newborns]. Harefuah, 1996 Feb 1 [Go to PubMed]
- Exchange transfusion has an important role in the treatment of hyperbilirubinemia of the newborn. It is used in attempts to prevent kernicterus when bilirubin levels are high. We describe our experience in 203 exchange transfusions performed on 143 infants (81 males and 62 females) with hyperbilirubinemia during 1983-1992. In only 30% of cases was there a specific etiological diagnosis of the jaundice based on a positive Coombs test, G6PD deficiency, or the presence of sepsis or maternal diabetes; the rest were idiopathic. 57% of the neonates were premature (26-36 weeks of gestation). Premature neonates underwent more transfusions than full-term infants (1.6 vs 1.2). There was no direct death from exchange transfusion; morbidity was 6.3% (including bradycardia, apnea, thrombocytopenia, hypoglycemia and hyponatremia). Most complications occurred in preterm infants and those severely ill. All complications were treated immediately and there were no sequelae.
- 17337825
- G6PD
- downregulation
- Unclassified
- Method
- NA
- Summary
- NA
- Late onset jaundice and urinary tract infection in neonates. Indian journal of pediatrics, 2007 Feb [Go to PubMed]
- To etermine the prevalence and the associated parameters of urinary tract infection (UTI) in infants with late onset jaundice.
This prospective analytic study was conducted among 400 cases, selected by simple sampling from neonates with late onset jaundice admitted in two referral hospitals of Isfahan during a 9-month period. The information including the age, sex and feeding type, as well as the results of physical examination, treatment, radiology studies, etc were recorded. The etiology of jaundice was assessed by laboratory tests. Urine analysis and urine culture were performed for all subjects. XZ and t-test were used for analysis of the data in- SPSS software.
Of the 400 icteric neonates, 147 (36.8%) were female and 253 (63.3%) were male; 23 (5.8%) were diagnosed to have UTI, 5 cases (1.3%) had G6PD deficiency, 19 (4.8%) had dysmorphic red blood cell and 3(0.75%) had ABO or RH incompatibility. The relation between the type of feeding, circumcision and UTI was significant (P< 0.05). Of the 23 neonates with UTI,4 cases (17. 39%) were found to have urogenital abnormality.
UTI was found in 5.8% of infants with late onset jaundice. The study revealed significant association between breast feeding, circumcision and lower prevalence of UTI in icteric neonates. It is suggested that evaluation for UTI should be considered as a screening test in all cases of neonatal late onset jaundice. - 18330254
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Our results do not support the view that C. chinensis could aggravate jaundice of G6PD deficient neonates.
- [Investigation of Coptis chinensis on jaundice of glucose-6-phosphate dehydrogenase (G6PD) deficient neonates from Guigang, Guangxi province]. Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazh, 2007 Dec [Go to PubMed]
- To investigate the effect of Coptis chinensis on jaundice of G6PD deficient neonates.
122 G6PD deficient neonates with jaundice who were in People' s Hospital of Guigang of Guangxi province from January 1999 to October 2004 were divided into two groups: C. chinensis group (62 neonates with C. chinensis administration before jaundice' s appearance) and none C. chinensis group (60 neonates without C. chinensis administration before jaundice' s appearance). The initial time, duration of jaundice, hemoglobin and serum bilirubin level and the incidence of kernicterus were analyzed between the two groups.
The initial time of jaundice is significantly later and the duration of jaundice is markedly shorter in the neonates with C. chinensis than that without C. chinensis. Simultaneously, the level of hemoglobin is significantly increased, and there is a low tendency of serum total bilirubin and direct bilirubin level in C. chinensis group as compared to that in none C. chinensis group. Moreover, there is no kernicterus in C. chinensis group and no difference in the treating result out of hospital between the two groups.
Our results do not support the view that C. chinensis could aggravate jaundice of G6PD deficient neonates. - 12772532
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Evidence-based early discharge can decrease the social and financial burden of G6PD deficiency in Singapore.
- Predicting significant hyperbilirubinaemia and early discharge for glucose-6-phosphate dehydrogenase deficient newborns. Annals of the Academy of Medicine, Singapore, 2003 Mar [Go to PubMed]
- This study aims to assess the usefulness of day 3 (49 to 72 hours) pre-phototherapy total serum bilirubin (TSB) in predicting subsequent significant hyperbilirubinaemia (SHB) and the feasibility of early discharge for term and near-term glucose-6-phosphate dehydrogenase (G6PD) deficient newborns.
This prospective cohort study involved in born G6PD deficient neonates who were > or = 35 weeks and weighted > or = 2000 g at birth. TSB levels and phototherapy requirements in their first two weeks of life were studied. Day 3 pre-phototherapy TSB in the subgroup weighing > or = 2500 g at birth was analysed for its value in predicting subsequent SHB.
Of the 129 neonates, 58 (45%) required phototherapy in the first week. Of these, only 4 patients (3.1%) needed phototherapy to be restarted in the second week. Seventy-one (55%) neonates did not require phototherapy at all. In the absence of SHB in the first week, the probability of its development in the second week was zero (95% confidence interval, 0 to 0.057). In the subgroup weighing > or = 2500 g at birth, day 3 pre-phototherapy TSB < or = 154 umol/L predicted no measurable risk of subsequent SHB (sensitivity, 100%; 95% confidence interval, 91.4% to 100%; negative predictive value, 100%; 95% confidence interval, 86.7% to 100%).
G6PD deficient newborns without SHB in their first week of life were at no measurable risk of its development in the second week. Day 3 pre-phototherapy TSB in the subgroup weighing > or = 2500 g was useful for predicting the risk of subsequent SHB. Low-risk infants, thus identified, may be eligible for discharge on or before day 7 of life. Evidence-based early discharge can decrease the social and financial burden of G6PD deficiency in Singapore. - 15724035
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The data show that jaundice in G6PD deficient neonates is the result of an imbalance between production and conjugation of bilirubin with a tendency for inefficient bilirubin conjugation over increased haemolysis in its Pathogenesis.
- Neonatal bilirubin production-conjugation imbalance: effect of glucose-6-phosphate dehydrogenase deficiency and borderline prematurity. Archives of disease in childhood. Fetal and neonat, 2005 Mar [Go to PubMed]
- To evaluate relations between production and conjugation of bilirubin in the pathophysiology of jaundice in glucose-6-phosophate dehydrogenase (G6PD) deficient neonates.
Term and borderline premature (35-37 weeks gestational age), healthy, male, G6PD deficient neonates were studied close to the beginning of the 3rd day. Blood carboxyhaemogobin corrected for inspired CO (COHbc; an index of bilirubin production) and serum total conjugated bilirubin (TCB; a reflection of bilirubin conjugation) were measured in simultaneously drawn blood samples by gas chromatography and reverse phase high performance liquid chromatography respectively. A bilirubin production-conjugation index comprising COHbc/TCB was determined; a high index reflects imbalance between the bilirubin production and conjugation processes. COHbc and TCB individually and the production-conjugation index were studied in relation to serum total bilirubin (STB) concentration.
Fifty one G6PD deficient neonates were sampled at 51 (8) hours. COHbc values did not correlate with STB (r=0.22, p=0.15). TCB did correlate inversely with STB (r=-0.42, p=0.004), and there was a positive correlation between the production-conjugation index and STB (r=0.45, p=0.002). The production-conjugation index (median (interquartile range)) was higher in the premature (n=8) than term neonates (2.31 (2.12-3.08) v 1.05 (0.53-1.81), p=0.003). This difference was the result of changes in TCB.
The data show that jaundice in G6PD deficient neonates is the result of an imbalance between production and conjugation of bilirubin with a tendency for inefficient bilirubin conjugation over increased haemolysis in its pathogenesis. Borderline premature infants are at special risk of bilirubin production-conjugation imbalance. - 10091404
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- glucose-6-phosphate dehydrogenase deficiency
- Summary
- These findings indicate that Gilbert's syndrome does not account for the hyperbilirubinemia occurring in some neonates with glucose-6-phosphate dehydrogenase deficiency.
- Gilbert's syndrome and jaundice in glucose-6-phosphate dehydrogenase deficient neonates. Haematologica, 1999 Feb [Go to PubMed]
- The pathogenesis of the hyperbilirubinemia present in approximately 30% of neonates affected by glucose-6-phosphate dehydrogenase deficiency is an unsolved problem. We evaluated the effect of Gilbert's syndrome, the most common defect of bilirubin conjugation, on the hyperbilirubinemia of these neonates.
One hundred and two neonates affected by glucose-6-phosphate dehydrogenase deficiency were enrolled in this study: 56 had hyperbilirubinemia and 46 had normal bilirubin levels. The analysis of the A(TA)nTAA motif in the promoter region of the UGT1A gene was performed by means of PCR, followed by separation on 6% denaturing polycrylamide gel.
The frequency of the three different genotypes of the A(TA)nTAA motif was similar in the study and control groups. Our results demonstrated no difference in the percentage of homozygotes for the UGT1A (TA)7 variant associated with Gilbert's syndrome.
These findings indicate that Gilbert's syndrome does not account for the hyperbilirubinemia occurring in some neonates with glucose-6-phosphate dehydrogenase deficiency. Furthermore our results suggest that hemolysis is not the major event in the pathogenesis of hyperbilirubinemia in these patients. - 3810219
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- NA
- Screening of jaundiced neonates for glucose-6-phosphate dehydrogenase deficiency. Southern medical journal, 1987 Feb [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is transmitted as an X-linked recessive disorder, and thus female infants are expected to be only rarely affected. Review of the records of 1,478 jaundiced newborn infants (728 boys and 750 girls) screened for G6PD deficiency at the Foothills Provincial Hospital in Calgary showed 41 (5.6%) boys and 17 (2.2%) girls with this disorder. In view of the unexpected and unexplained high frequency of G6PD deficiency in female infants, I recommend that screening for this disorder be done in selected jaundiced infants regardless of sex.
- 7301464
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- NA
- Glucose-6-phosphate dehydrogenase red blood cell phenotype in GdMediterranean heterozygous females and hemizygous males at birth. Pediatric research, 1981 Nov [Go to PubMed]
- The distribution of red blood cell G6PD phenotype was studied by means of the methemoglobin elution test in newborn (46) and adult (50) GdMediterranean heterozygous females and newborn (20) and adult (30) hemizygous males. Newborn heterozygotes had a statistically significant (P less than 0.0005) lower mean red blood cell G6PD enzymatic activity (3.23 +/- 1.04) than did normal newborns (8.78 +/- 1.91), whereas there was no significant difference (P greater than 0.30) from the mean of adult heterozygotes (2.93 +/- 0.86). Like adults, newborn heterozygous females showed: (1) a clear correlation (P less than 0.001) between the percentage of enzyme-deficient red blood cells and G6PD enzymatic activity; and (2) the expected two red blood cell population, i.e., one deficient and the other normal (mosaicism). However, in newborns, the distribution of the subjects according to G6PD-deficient red blood cell percentage (mean percent, 43.67) was significantly shifted (P less than 0.025) in favour of the normal phenotyp, unlike adult heterozygotes, who showed a symmetrical distribution of G6PD positive and negative red blood cells (mean percent G6PD-deficient red blood cells, 53.27; P greater than 0.20). Newborn hemizygous males showed a consistent percentage (average, 8.28 +/- 2.2) of stained red blood cells due to the presence of young erythrocytes (pseudomosaicism) unlike the occasional stained cells (less than or equal to 5) seen in adults. The prevalence of hyperbilirubinemia in hemizygous males and heterozygous females was 10.22 and 2.2%, respectively, whereas in G6PD normal newborns it was 5.1%. The practical implication of this study is that the diagnosis at birth of the heterozygous state for G6PDdeficiency of the Mediterranean type may be more difficult than in adults. Therefore, very sensitive methods, such as the methemoglobin elution test, should be carried out.
- 1445122
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Glucose-6-phosphate dehydrogenase deficiency is a common aetiological factor for Jaundice.
- Jaundice: clinical practice in 88,000 liveborn infants. gynaecology, 1992 Aug [Go to PubMed]
- We reviewed jaundiced infants born between 1971 and 1989. Jaundice was diagnosed in infants whose serum bilirubin level was found to be 154 umol/l or greater. Of 88,137 livebirths, 10,944 (12.4%) were jaundiced. The most common aetiological factor was prematurity (20.3%), followed by ABO erythroblastosis (5.5%), sepsis (1.8%), Rh erythroblastosis (1.8%), bruising (1.3%), multifactorial (1.0%) and glucose-6-phosphate dehydrogenase deficiency (0.5%). In the remainder (67.8%) no cause was found or inadequate investigations were performed to determine a cause. During the period under review there was a significant increase (r = 0.91) in the proportion of newborn infants with jaundice of prematurity, in those not investigated (r = 0.92) and a decrease in the proportion with bruising (r = -0.90) as the cause. Phototherapy was used on 4,126 (37.7%) infants and exchange transfusion performed on 248 (2.3%). Causes of jaundice in infants requiring exchange transfusion were Rh erythroblastosis (108, 43.6%), ABO erythrolastosis (58, 23.4%), jaundice of prematurity (44, 17.7%) and a variety of causes in the remaining 38 (15.3%). Death occurred in 164 (1.5%) infants. In only 7 (4.3%), however, was the death possibly related to hyperbilirubinaemia or its treatment (Rh erythroblastosis (4), necrotizing enterocolitis following exchange transfusion (2) and pulmonary haemorrhage following exchange transfusion (1)). Phototherapy proved safe with no deaths attributable to its use.
- 6674910
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- An increase of erythrocyte G-6-PD levels was observed in normal G-6-PD patients, while increase in the enzymatic activity was not observed in G-6-PD-deficient neonates
- Effect of phenobarbital treatment on erythrocyte glucose-6-phosphate dehydrogenase in human newborns. Pediatric pharmacology (New York, N.Y.), 1983 [Go to PubMed]
- The effect of phenobarbital (PB) treatment on erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) levels was studied in normal and G-6-PD-deficient human newborns. An increase of erythrocyte G-6-PD levels was observed in normal G-6-PD patients, while increase in the enzymatic activity was not observed in G-6-PD-deficient neonates.
- 8354322
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- NA
- Efficacy of phototherapy in neonatal hyperbilirubinaemia associated with glucose-6-phosphate dehydrogenase deficient status. European journal of pediatrics, 1993 Jul [Go to PubMed]
- The efficacy of phototherapy in a group of 427 infants with hyperbilirubinaemia associated with glucose-6-phosphate dehydrogenase (G6PD) deficiency and a comparable group of 3924 G6PD normal infants with non-haemolytic hyperbilirubinaemia was evaluated. Phototherapy was highly effective in reducing bilirubin levels in both groups of infants, being significantly more effective in the group with normal G6PD status. Failure rate was very low (2.03/1000) in the group with normal G6PD status and nil in the G6PD deficient group. Bilirubin rebound after phototherapy was unremarkable with very few infants requiring a second exposure--4.68/1000 in the G6PD deficient group and 6.37/1000 in the G6PD normal group. All the babies tolerated phototherapy well. Phototherapy would therefore seem to be a simple and effective method for the management of severe jaundice associated with G6PD deficiency.
- 12777545
- G6PD
- downregulation
- Unclassified
- Method
- glucose-6-phosphate dehydrogenase deficiency
- Summary
- NA
- Infants with bilirubin levels of 30 mg/dL or more in a large managed care organization. Pediatrics, 2003 Jun [Go to PubMed]
- To describe the incidence, etiology, treatment, and outcome of newborns with total serum bilirubin (TSB) levels >or=30 mg/dL (513 micro mol/L).
Population-based case series.
Eleven Northern California Kaiser Permanente Medical Care Program hospitals and 1 affiliated hospital.
Eleven infants with TSB levels of >or=30 mg/dL in the first 30 days after birth, identified using computer databases from a cohort of 111,009 infants born 1995-1998.
Clinical data from the birth hospitalization, rehospitalization, and outpatient visits in all infants; psychometric testing at age 5 (N = 3), neurologic examinations by child neurologists at age 5 (N = 3), or primary care providers (N = 7; mean age: 2.2 years); Parent Evaluation of Developmental Status (N = 8; mean age: 4.2 years).
Maximum TSB levels of the 11 infants ranged from 30.7 to 45.5 mg/dL (525 micro mol/L to 778 micro mol/L; mean: 34.9 mg/dL [597 micro mol/L]). Four were born at 35 to 36 weeks gestation, and 7 were exclusively breastfed. Two had apparent isoimmunization; the etiology for the other 9 remained obscure, although only 4 were tested for glucose-6-phosphate dehydrogenase deficiency and 1 was bacteremic. None had acute neurologic symptoms. All received phototherapy and 5 received exchange transfusions. One infant died of sudden infant death syndrome; there was no kernicterus at autopsy. Two were lost to follow-up but were neurologically normal when last seen for checkups at 18 and 43 months. One child was receiving speech therapy at age 3. There were no significant parental concerns or abnormalities in the other children.
In this setting, TSB levels >or=30 mg/dL were rare and generally unaccompanied by acute symptoms. Although we did not observe serious neurodevelopmental sequelae in this small sample, additional studies are required to quantify the known, significant risk of kernicterus in infants with very high TSB levels. - 2228091
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- Hyperbilirubinemia developed in 48.7% of babies having G6PD deficiency : It is recommended that any neonate presenting with jaundice must be screened for G6PD deficiency not only to define the etiology of hyperbilirubinemia but also to prevent future hemolytic episodes.
- G6PD deficiency in neonates: a prospective study. Indian journal of pediatrics, [Go to PubMed]
- One thousand consecutively born babies were screened for G6PD deficiency and observed for seven days for development of jaundice. Frequency of the deficiency was 3.9%, being 5% in males and 2.8% in females. Religion did not have any bearing on the frequency. Parental screening in cases of babies deficient in G6PD enzyme revealed deficiency of the enzyme in majority of the mothers. Hyperbilirubinemia developed in 48.7% of babies having G6PD deficiency : It is recommended that any neonate presenting with jaundice must be screened for G6PD deficiency not only to define the etiology of hyperbilirubinemia but also to prevent future hemolytic episodes.
- 3629710
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- In 74 cases of HB (excluding those due to Rh incompatibility) collected from the above series and from subsequent hospital admissions, incidences of different factors contributing to HB were:G6PD deficiency in 35%.
- Role of G6PD, ABO incompatibility, low birth weight and infection in neonatal hyperbilirubinaemia. Tropical and geographical medicine, 1987 Apr [Go to PubMed]
- In a random sample of 1,000 neonates from a Delhi Hospital the incidence of jaundice was 53% and of hyperbilirubinaemia (HB) 6%. Rh incompatibility was detected in 4% of the neonates. In 74 cases of HB (excluding those due to Rh incompatibility) collected from the above series and from subsequent hospital admissions, incidences of different factors contributing to HB were: low birth weight in 54%, G6PD deficiency in 35%, ABO incompatibility in 31% and infection in 31%. In 45% of them a single factor was present and in the remaining more than one factor was present.
- 24872634
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- The most important treatment measure is prevention: Avoidance of the drugs and foods that cause hemolysis.
- Periodontal considerations in a patient with glucose-6-phosphate dehydrogenase deficiency with associated pancytopenia: A rare case report. Journal of Indian Society of Periodontology, 2014 Mar [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme defect in humans. G6PD deficiency is widely distributed in tropical and subtropical parts of the world and a conservative estimate is that at least 500 million people have a G6PD deficient gene. In several of these areas, the frequency of a G6PD deficiency gene may be as high as 20% or more. The vast majority of people with G6PD deficiency remain clinically asymptomatic throughout their lifetime. However, all of them have an increased risk of developing neonatal jaundice and a risk of developing acute hemolytic anemia when challenged by a number of oxidative agents. The most important treatment measure is prevention: Avoidance of the drugs and foods that cause hemolysis.
- 2712517
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- Hyperbilirubinaemia associated with G6PD deficiency is presented and phototherapy was effective and safe in reducing bilirubin levels in hypebilirubinaemia associated with G6PD deficiency.
- Clinical experience with phototherapy. Annals of the Academy of Medicine, Singapore, 1989 Jan [Go to PubMed]
- Clinical experience with phototherapy in 3,999 infants with non-haemolytic hyperbilirubinaemia and 427 infants with hyperbilirubinaemia associated with G6PD deficiency is presented. For non-haemolytic hyperbilirubinaemia, phototherapy was extremely effective in extremely preterm infants with very low birth weight (gestation less than or equal to 32 weeks, birth weight less than or equal to 1,500 gm) and least effective in full term infants with very low birth weight (gestation greater than 37 weeks, birth weight less than or equal to 1,500 gm) and large preterm infants (gestation less than 37 weeks, birth weight greater than 2,270 gm). The failure rate of phototherapy for non-haemolytic hyperbilirubinemia was only 2.00/1,000 infants. The bilirubin rebound was usually mild; repeat phototherapy was required in only 30 infants (7.50/1,000) with the response to the second exposure comparable to that of the first. No infant required a third exposure. Phototherapy was effective in reducing bilirubin levels in hypebilirubinaemia associated with G6PD deficiency, the effectiveness being, however, less than in babies with non-haemolytic hyperbilirubinaemia (G6PD normal status). There was no failure in this group of babies. Only a small proportion of infants required a second exposure (4.68/1,000). All the infants tolerated phototherapy well with none developing any illness that could be attributed to the exposure. This clinical experience demonstrates that phototherapy is effective and safe for the treatment of non-haemolytic hyperbilirubinaemia or hyperbilirubinaemia associated with G6PD deficiency.
- 12368976
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- A Diagnosis of G6PD deficiency should be considered in African American neonates, females as well as males, with unexplained hemolysis or hyperbilirubinemia.
- Hemolysis and hyperbilirubinemia in an African American neonate heterozygous for glucose-6-phosphate dehydrogenase deficiency. Journal of perinatology : official journal of the , [Go to PubMed]
- Despite recent case reports of bilirubin encephalopathy in African American glucose-6-phosphate dehydrogenase (G6PD)-deficient neonates, there is a misconception that, in African Americans, G6PD deficiency need not be considered in the differential diagnosis of hyperbilirubinemia. We present a case of a hyperbilirubinemic African American female neonate in whom coexisting G6PD deficiency in the heterozygous state, and Gilbert's syndrome, were confirmed by DNA analysis. Hemolysis, predictive of the subsequent icterus, was documented by end-tidal carbon monoxide determinations at two time periods within the first 25 hours of life. A diagnosis of G6PD deficiency should be considered in African American neonates, females as well as males, with unexplained hemolysis or hyperbilirubinemia.
- 6662695
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- It is suggested that Eight hundred preterm (PT) and low-birth-weight (LBW) infants born to parents of Asian or North African origin be routinely screened for erythrocyte G6PD activity and monitored for possible jaundice.
- Neonatal bilirubin levels and glucose-6-phosphate dehydrogenase deficiency in preterm and low-birth-weight infants in Israel. Israel journal of medical sciences, 1983 Dec [Go to PubMed]
- Eight hundred preterm (PT) and low-birth-weight (LBW) infants, born during a period of 33 months, were examined for erythrocyte glucose-6-phosphate dehydrogenase (G6PD) activity. Each of 17 infants with G6PD deficiency was compared with the next PT or LBW infant born with normal enzyme activity. The groups were similar with respect to gestational age, birth weight, maximal weight loss, breast or formula feeding and the use of oxytocin during labor. Peak bilirubin levels were significantly higher in G6PD-deficient PT and LBW infants (11.7 +/- 1.4 vs. 9.5 +/- 2.1 mg/dl, P less than 0.001). There were no signs of frank hemolysis, and none of the patients underwent exchange transfusion. Early jaundice and the use of phototherapy were somewhat more frequent among the G6PD-deficient group, but not significantly so. It is suggested that PT and LBW infants born to parents of Asian or North African origin be routinely screened for erythrocyte G6PD activity and monitored for possible jaundice.
- 8545162
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- NA
- Clinical rounds in the well-baby nursery: treating jaundiced newborns. Pediatric annals, 1995 Oct [Go to PubMed]
- Ten pearls (and pitfalls) in the management of the jaundiced newborn: Remember to take a history. Ask about jaundice in previous siblings and check family ethnicity. Don't ignore jaundice in the first 24 hours--it is considered pathologic until proven otherwise. Some normal infants may appear jaundiced and have a bilirubin level of 5 mg/dL at 23 hours and 59 minutes. On the other hand, a bilirubin level of 5 mg/dL at 10 hours is almost certainly pathologic. Use your judgment. Don't treat 35 to 37 week gestation infants as if they were full-term infants. Although these babies are cared for in well-baby nurseries and are generally treated like full-term infants, they are not full term. They are not as vigorous and do not nurse as well as full-term infants. Infants at 37 weeks gestation are four times more likely to have a serum bilirubin level greater than 13 mg/dL than those at 40 weeks gestation. Don't send 35-week gestation infants home before 48 hours. Document your assessment, particularly if the infant i being discharged early. Document the presence or absence of jaundice and its severity. A late rising bilirubin is typical of G6PD deficiency. Think about the ethnic background: G6PD deficiency is much more likely to occur in families from Greece, Turkey, Sardinia, and Nigeria, and particularly in Sephardic Jews from Iraq, Iran, Syria, and Kurdistan. Your practice may not contain many such families but remember in today's world of travel and intermarriage, etc, these genes are ubiquitous and the diagnosis of G6PD deficiency should always be considered in a newborn child with a significant elevation of bilirubin, particularly if it is a male and the rise in bilirubin is of late onset. Don't use homeopathic doses of phototherapy. As with any drug, phototherapy should be provided in a therapeutic dose (see above), but with the light sources commonly used, it is impossible to overdose the patient. Don't ignore a failure of response to phototherapy. If the bilirubin rises despite adequate phototherapy, there mustbe a reason. Consider the possibility of an unrecognized hemolytic process. Provide timely follow-up. Infants discharged (as most are) before 48 hours should be seen by a health-care professional within 2 to 3 days of discharge. Don't ignore prolonged jaundice. About one in three normal breast-fed infants still will be clinically jaundiced when they are 2 weeks old (two thirds will be biochemically jaundiced). These infants all have indirect hyperbilirubinemia. Occasionally, however, an infant with prolonged jaundice has direct hyperbilirubinemia. In these infants, the diagnosis of biliary atresia or some other cause of cholestatic jaundice must be considered. If the infant is clinically jaundiced beyond age 2 weeks, you should: 1) check the newborn record to make sure that the metabolic screen for hypothyroidism is normal (congenital hypothyroidism is a cause of indirect hyperbilirubinemia), and 2) ask the mother about the color of the urine and stool. If the baby's stools are pale or the urine is dark yellw, you must get a direct bilirubin to rule out cholestasis. If there is direct hyperbilirubinemia, a urine dipstick will identify the presence of bile (bilirubin). If the color of the urine and stool are normal (by history), it is reasonable to follow the child for another week. However, any infant who is still jaundiced beyond age 3 weeks must have a measurement of direct bilirubin. Don't ignore severe jaundice. If the bilirubin is sufficiently elevated, kernicterus can occur in a healthy, breast-fed infant.
- 830875
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Infants who were exposed to phototherapy developed riboflavin deficiency; all who had phototherapy for 49 hours or more developed the deficiency. That the concentration of serum bilirubin or the duration of hyperbilirubinemia was not a factor is supported by the fact that none of the controls became deficient.
- Light (phototherapy)--induced riboflavin deficiency in the neonate. The Journal of pediatrics, 1977 Jan [Go to PubMed]
- Phototherapy with blue light decomposes riboflavin, which has a maximum absorption at 450 nm. A study was designed to determine whether riboflavin deficiency developed in neonates who received phototherapy for moderate hyperbilirubinemia. Twenty-one infants with normal erythrocyte glucose-6-phosphate dehydrogenase activity were investigated. Five infants with moderate hyperbilirubinemia who did not require phototherapy served as the controls. Riboflavin deficiency was determined from the degree of saturation of erythrocyte glutathione reductase, a method shown to reflect riboflavin nutritional status in the neonate. Sixteen of 21 infants who were exposed to phototherapy developed riboflavin deficiency; all who had phototherapy for 49 hours or more developed the deficiency. That the concentration of serum bilirubin or the duration of hyperbilirubinemia was not a factor is supported by the fact that none of the controls became deficient. This observation may have important metabolic and clinical consequences fr the neonate.
- 16149673
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- G6PD deficiency (13.4%)were identified as causes of hyperbilirubinemia.
- Exchange transfusion and its morbidity in ten-year period at King Chulalongkorn Hospital. Journal of the Medical Association of Thailand = C, 2005 May [Go to PubMed]
- The objectives of this study were to consider the rate of exchange transfusion (ET) in the newborns at King Chulalongkorn Hospital, Bangkok, from 1994 to 2003, and to evaluate its morbidity and mortality. One hundred and sixty five neonates underwent 183 episodes of ET: In-housed fullterm had ET performed at a younger age than the readmitted/referred infants (72.2 +/- 30.9 vs 150.2 +/- 90.7 hours, p < 0.001), and the in-housed preterm neonates (85.4 +/- 36.7 hours, p < 0. 05). They also had lower mean TsB than those of the readmitted/referred infants when ET was initiated (21.8 +/- 2.1 vs.26. 0 +/- 5.1 mg/dL, p < 0.001). Preterm needed phototherapy after ET longer than fullterm neonates (5.3 +/- 3.2 vs 3.3 +/- 1.7 days, p < 0.001). ABO incompatibility (21.3%), G6PD deficiency (13.4%), both conditions (6.7%), and others (22.2%) were identified as causes of hyperbilirubinemia. Unknown causes accounted for 36.4%. There was no mortality in the present study. Overall rate of morbidity was 15.3% of which 67 percent was infection associated conditions. Preterm suffered additional complications of anemia, apnea and cardiac arrest. Sick infants (31.3%) were more likely to develop complications than healthy ones (6.8%). In the healthy group, preterm were more likely to develop morbidity than fullterm neonates (p = 0.0016), while no significant difference was identified between them in the sick group (p = 0.8). ET causes high morbidity, therefore, it should be initiated only when the benefit of preventing kernicterus outweighs the complications associated with the procedure.
- 18080595
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD deficiency was commonly associated with bilirubin encephalopathy.
- The incidence and outcome of bilirubin encephalopathy in Nigeria: a bi-centre study. Nigerian journal of medicine : journal of the Nati, [Go to PubMed]
- To determine the current trends in the incidence and outcome of bilirubin encephalopathy among Nigerian babies.
A review of the hospital records of babies managed for bilirubin encephalopathy at the Wesley Guild Hospital (WGH), Ilesa and Olabisi Onabanjo University Teaching Hospital (OOUTH), Sagamu, both in southwest Nigeria between 2001 and 2005 was carried out. The age, sex, weight, body temperature on admission, place of delivery and outcome of hospitalization were studied. The fatal cases and the survivors were compared for risk factors for mortality.
Fifty eight (3.4%) and 57 (2.3%) babies had bilirubin encephalopathy out of 1706 and 2492 total neonatal admissions at OOUTH and WGH respectively. Of these 115 babies, 3 (2.6%), 84 (73.0%) and 28 (24.3%) were aged <3 days, 3-6 days and 7 days or more. Sixty eight (59.1%) babies were delivered in orthodox health facilities. Aside clinically suspected cases of G6PD deficiency, ABO incompatibility and septicaemia were commonly associated with bilirubin encephalopathy, Forty four (38.3%), 36 (31.3%) and 35 (30.4%) had Unconjugated bilirubin of <340 micromol/L, 341-425 micromol/L and >425 micromol/L respectively Sixty eight (59.1%) were discharged, 42 (36.5%) died while 5 (4.7%) were discharged against medical advice. Prematurity, low birth weight, severe anaemia and inability to do Exchange Blood Transfusion were significant risk factors for mortality among babies with bilirubin encephalopathy. Cerebral palsy, seizure disorders and deafness were the leading neurological sequelae (86.4%, 40.9% and 36.4% respectively) among the 22 survivors who were followed up.
Bilirubin encephalopathy remains a common clinical finding in Nigeria and the associated mortalities and neurological sequelae are significant. - 12369486
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- glucose-6-phosphate dehydrogenase deficiency
- Summary
- NA
- Serum bilirubin levels in 1-month-old, healthy, term infants from southern Turkey. Annals of tropical paediatrics, 2002 Sep [Go to PubMed]
- This study investigated bilirubin levels in 282 1-month-old, healthy, term infants from the Adana region in southern Turkey. Total bilirubin was > 5 mg/dl in 20.2% of the infants and > 10 mg/dl in 6% of the group. Thyroid function and levels of alanine aminotransferase, aspartate aminotransferase and glucose-6-phosphate dehydrogenase were determined in babies with bilirubin levels > 5 mg/dl. The results were normal in all but one case, an infant with a bilirubin level of > 10 mg/dl and glucose-6-phosphate dehydrogenase deficiency. The results indicate that in this population a 5-mg/dl cut-off level for further investigation would mean that 20% of all infants would require further evaluation. This is not cost-effective. Based on our findings, we suggest that the cut-off level for investigating prolonged jaundice in term, 1-month-old, healthy infants in the Turkish population should be > 5 mg/dl.
- 11793482
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary disorder in humans.G6PD Viangchan (871G>A) is probably the most common variant in non-Chinese Southeast Asian population.
- A) is the most common deficiency variant in the Thai population. Human mutation, 2002 Feb [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary disorder in humans. Through a population study for G6PD deficiency using a cord blood quantitative G6PD assay in Bangkok, Thailand, we found that the prevalence of G6PD deficiency is 11.1% in Thai male (N=350) and 5.8% in female (N=172) cord blood samples. Among the neonates with hyperbilirubinemia, the prevalence of G6PD deficiency is 22.1% in males (N=140) and 10.1% in females (N=89). We developed a PCR-restriction enzyme-based method to identify G6PD Viangchan (871G>A), and searched for this and 9 other mutations in DNA from G6PD deficient blood samples. G6PD Viangchan (871G>A) was the most common mutation identified (54%), followed by G6PD Canton (1376G>T; 10%), G6PD Mahidol (487G>A; 8%), G6PD Kaiping (1388G>A; 5%), G6PD Union (1360C>T; 2.6%) and"
Chinese-"
(1024C>T; 2.6%). Among 20 neonates with hyperbilirubinemia, G6PD Viangchan was also most frequently identified (60%), followed by G6PD Canton (10%), G6PD Mahidol, G6PD Union, and G6PD Kaiping (5% each). G6PD Viangchan appears from this study to be the most common G6PD mutation in the Thai population, bringing into question previous reports that G6PD Mahidol is most prevalent. G6PD Viangchan, together with G6PD Mahidol and G6PD Canton, are responsible for over 70% of G6PD deficiency in this study of Thais. With the data from other Southeast Asian ethnic groups such as Laotians, G6PD Viangchan (871G>A) is probably the most common variant in non-Chinese Southeast Asian population. - 20497361
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency was the most commonly identified association of prolonged unconjugated jaundice.
- Natural history and predictive risk factors of prolonged unconjugated jaundice in the newborn. Pediatrics international : official journal of the, 2010 Oct [Go to PubMed]
- This study aimed to investigate the natural course and risk factors for prolonged unconjugated jaundice (PUJ) in neonates.
This was a prospective descriptive study conducted in a tertiary care referral hospital of Northern India. The study included neonates who presented with clinical jaundice beyond 14 days of age. A detailed history, clinical examination and investigations were performed in all. All were followed till the normalization of clinical jaundice or up to 8 weeks of age, whichever was earlier. The key outcome measure was time to normalization of PUJ. Predictive risk factors for PUJ were analyzed by comparing with matched controls. Regression analysis was done for independent predictive risk factors of PUJ.
A total of 71 infants presented with prolonged jaundice (PJ). Out of these, 66 infants (93%) had PUJ. Glucose-6-phosphate dehydrogenase (G6PD) deficiency was the most commonly identified association of PUJ (24%). The median duration of jaundice in infants with PUJ was 5 weeks (range: 5-8). PJ in siblings (OR 2.9 [1.1-7.6]), oxytocin use during labor (OR 3.4 [1.1-10.4]) and G6PD deficiency (OR 4.0 [1.1-14.1]) were independent predictors of PUJ.
Irrespective of the etiology, by 8 weeks, PUJ disappeared in all infants. G6PD deficiency was the most common association of PUJ. A history of PJ in siblings, use of oxytocin during labor and G6PD deficiency were independent predictors for PUJ. - 12729287
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- There is concern about the increasing incidence of kernicterus being reported worldwide, especially due to unrecognized G6PD deficiency.
- Kernicterus and G6PD deficiency--a case series from Oman. Journal of tropical pediatrics, 2003 Apr [Go to PubMed]
- The relationship between glucose-6 phosphate dehydrogenase (G6PD) deficiency and jaundice in the newborn period is well recognized. However, there is concern about the increasing incidence of kernicterus being reported worldwide, especially due to unrecognized G6PD deficiency and early discharge from hospital after birth. We report a case series of kernicterus from a set-up where the high prevalence rate of G6PD deficiency is known. Fourteen cases of kernicterus were seen during a time period of 6 years, 71 per cent of them had G6PD deficiency. Recent literature is reviewed and possible preventive measures in the light of current information and practices are suggested.
- 16493435
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- We present a case report of anemia and prolonged hyperbilirubinemia due to G6PD deficiency in the absence of hemolysis in dichorionic, triamniotic, preterm triplets of African-American descent.
- Glucose-6-phosphate dehydrogenase deficiency in triplets of African-American descent. Journal of perinatology : official journal of the , 2006 Mar [Go to PubMed]
- Despite the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in African Americans, the disorder maybe often overlooked as a diagnosis in the absence of overt signs of hemolysis in neonates with hyperbilirubinemia. We present a case report of anemia and prolonged hyperbilirubinemia due to G6PD deficiency in the absence of hemolysis in dichorionic, triamniotic, preterm triplets of African-American descent.
- 6882560
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- It is likely that the lack of decrease of enzyme activities in the jaundiced infants depend upon the loss of oldest red cells with low glucose-6-phosphate dehydrogenase and pyruvate kinase.
- [Kinetics of erythrocyte populations in newborn infants with hyperbilirubinemia]. Bollettino della Società italiana di biologia spe, 1983 May 30 [Go to PubMed]
- Determinations of erythrocyte glucose-6-phosphate dehydrogenase, pyruvate kinase and glucose-phosphate isomerase activities have been carried out in jaundiced and non-jaundiced newborn infants at birth and after 5 days of life. Only hyperbilirubinemias of unknown etiology have been considered. Previous investigations have demonstrated that erythrocyte age dependent enzyme activities decrease in the healthy newborn during the first week of life. Following the results of the present paper, jaundiced newborns do not show such a decrease, since a statistically significant difference between paired data of glucose-6-phosphate dehydrogenase and pyruvate kinase in jaundiced and non-jaundiced newborns have been found. It is likely that the lack of decrease of enzyme activities in the jaundiced infants depend upon the loss of oldest red cells with low glucose-6-phosphate dehydrogenase and pyruvate kinase. Our observation suggests the occurrence of a slight hemolysis in newborn infants with hyperbilirubinemia of unknon etiology.
- 18185880
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- NA
- Identifying risk of neonatal hyperbilirubinaemia and early discharge for glucose-6-phosphate dehydrogenase deficient newborns in Singapore. Annals of the Academy of Medicine, Singapore, 2007 Dec [Go to PubMed]
- This study aims to compare and assess usefulness of day 3 and 4 (49 to 96 hours) pre-phototherapy total serum bilirubin (TSB) in predicting subsequent significant hyperbilirubinaemia (SHB) in glucose-6-phosphate dehydrogenase (G6PD) deficient neonates.
This prospective study was on all the G6PD deficient newborns weighing >2500 g. Day 3 and 4 pre-phototherapy TSB and phototherapy requirements in their first 2 weeks of life were analysed for its value in predicting subsequent SHB.
The frequency of G6PD deficiency was 2.4%, 1 per 42 live births (1.3% in males and 1.1% in females). Phototherapy was required in 51% of G6PD deficient infants, all within the first week of life. In the absence of SHB in the first week, the probability of its development in the second week was zero (95% confidence interval, 0 to 0.051). The day 4 pre-phototherapy TSB of <160 micromol/L predicted no measurable risk of subsequent SHB (sensitivity, 94%; 95% confidence interval, 83.5% to 97.9%; specificity 82.8%; 95% confidence interval, 71.1% to 90.4%).
G6PD deficient newborns without SHB in their first week of life were at no measurable risk of its development in the second week. Day 4 pre-phototherapy has better sensitivity and specificity compared to day 3 pre-phototherapy TSB in predicting the risk of subsequent SHB. Low-risk infants, thus identified, may be eligible for discharge on or before day 7 of life. Infants with Day 4 TSB <160 can be even discharge on day 4 with follow-up appointment. Evidence-based early discharge can decrease the social, emotional and financial burden of G6PD deficiency in Singapore. - 8200159
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- NA
- Yield of reticulocyte counts and blood smears in term infants. Clinical pediatrics, 1994 Feb [Go to PubMed]
- Reticulocyte counts and blood smears are commonly recommended to evaluate jaundice in newborns. To investigate the results and diagnostic yield of these tests, we reviewed a computerized database and medical records of term newborns who had reticulocyte counts (n = 799) or blood smears (n = 781) within the first week after birth at two hospitals. Nearly a threefold difference was noted in reticulocyte counts between the two hospitals (median 8.0% vs 2.8%; P < .0001), apparently due to differences in laboratory methods. Among the patients with"
abnorma"
reticulocyte counts or blood smears (n = 192), isoimmunization was diagnosed in 54, presumed hemolysis of unknown etiology in two, G6PD deficiency in one, and pyropoikilocytosis in one. We conclude that better standardization of reticulocyte counts is needed. When ordered as screening tests for hemolysis in jaundiced infants, reticulocyte counts and blood smears seldom lead to diagnoses of hemolysis other than isoimmunization. - 20118060
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Severe hemolysis can be predicted during hemolytic episodes in children with low G6PD by young age, male gender, a negative family history of G6PD deficiency, the presence of fever and vomiting and a high ALP.
- Predictors of severe hemolysis in patients with glucose-6-phosphate dehydrogenase deficiency following exposure to oxidant stresses. Hematology/oncology and stem cell therapy, 2009 [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic enzymatic disorder that affects millions of people worldwide, and is a major health problem in Jordan. We studied factors that may predict severe hemolysis in children with G6PD deficiency.
We reviewed the records of patients with low G6PD activity admitted to a teaching hospital be- tween 1996 to 2007. We collected demographic data, details of sign and symptoms, history and type of fava bean ingestion, blood and Rh group, history of neonatal jaundice, history and type of drug use, abdominal pain at admission and the results of tests for hemoglobin, white blood cells (WBC), and hepatic function. We classified patients into mild and severe groups based on hemoglobin levels at admission.
Of 428 children with G6PD deficiency, 79 (18%) were severe cases and 349 (82%) patients with mild disease. There were no statistically significant differences in most factors between the two groups. Factors that achieved statistical significance for severe hemolysis included younger age (P<.05), male gender (P<.05), higher alkaline phosphatase (ALP) (P<.05), presence of fever at admission (P<.01), presence of vomiting during the at- tack (P=.006), and a negative family history for G6PD deficiency (P=.005).
Severe hemolysis can be predicted during hemolytic episodes in children with low G6PD by young age, male gender, a negative family history of G6PD deficiency, the presence of fever and vomiting and a high ALP. - 21403409
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- This study showed that GS cannot cause severe indirect hyperbilirubinemia by itself, but it may have a summative effect on rising bilirubin when combined with other factors, for example, G6PD.
- Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia. Annals of Saudi medicine, [Go to PubMed]
- The cause of hyperbilirubinemia cannot be found in about 45% of cases of neonatal jaundice. Gilbert syndrome (GS) is the most common congenital disease associated with bilirubin metabolism in the liver. Since the screening value of genetic tests cannot be fully determined until accurate data on the prevalence and penetrance of the GS genotype are known, we sought to estimate whether the prevalence of GS is higher in the parents of neonates with severe unexplained indirect hyperbilirubinemia.
Case-control study of parents of neonates with severe unexplained indirect hyperbilirubinemia admitted to a neonatal ward.
We used the rifampin test (checked bilirubin before and 4 hours after administration of 600 mg rifampin) for diagnosis of GS in parents of 115 neonates with severe unexplained indirect hyperbilirubinemia. We compared the prevalence of GS in these parents with that of a control group of 115 couples referred for premarital counseling.
The 115 neonates were aged 5.2 (1.6) days (mean, standard deviation), all were breast-fed, and males constituted 56.5%. Mean total serum bilirubin (TSB) level was 20.96 (5.48) mg/dL. 14.8% were glucose 6 phosphate dehydrogenase (G6PD) deficiency was present in 14.8%, and 10.4% had A, B or O blood group (ABO) incompatibilities with their mothers. There was no difference in the prevalence of GS between parents of the group with hyperbilirubinemia (22.2%) and the control group (19.13%) (P=.42). Mean TSB in neonates with parents who had GS was more (about 3 mg/dL) than in neonates with normal parents (P=.004). Fathers had GS twice as often as the mothers among the parents of neonates with hyperbilirubinemia (P=.003), among the control group (P=.009) and among neonates (P=.014).
This study showed that GS cannot cause severe indirect hyperbilirubinemia by itself, but it may have a summative effect on rising bilirubin when combined with other factors, for example, G6PD. Our results showed that in GS, males are affected about twice as much as the females. - 10914965
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Clinical examination by a paediatrician has a vital role in the screening process.
- Investigation of prolonged neonatal jaundice. Acta paediatrica (Oslo, Norway : 1992), 2000 Jun [Go to PubMed]
- Jaundice persisting beyond 14 d of age (prolonged jaundice) can be a sign of serious underlying liver disease. Protocols for investigating prolonged jaundice vary in complexity and the yield from screening has not been assessed. In order to address these issues, we carried out a prospective study of term infants referred to our neonatal unit with prolonged jaundice over an 18 mo period. Infants were examined by a paediatrician and had the following investigations: a total and conjugated serum bilirubin, liver function tests, full blood count, packed cell volume, group and Coombs' test, thyroid function tests, glucose-6-phosphate dehydrogenase levels and urine for culture. One-hundred-and-fifty-four infants were referred with prolonged jaundice out of 7,139 live births during the study period. Nine infants were referred to other paediatric specialties. One infant had a conjugated hyperbilirubinaemia, giving an incidence of conjugated hyperbilirubinaemia of 0.14 per 1,000 live births. Diagnoses included: giantcell hepatitis (n = 1), hepatoblastoma (n = 1), trisomy 9p (n = 1), urinary tract infections (n = 2), glucose-6-phosphate dehydrogenase deficiency (n = 3) and failure to regain birthweight (n = 1).
In conclusion, a large number of infants referred to hospital for prolonged jaundice screening had detectable problems. The number of investigations may safely be reduced to: a total and conjugated bilirubin, packed cell volume, glucose-6-phosphate dehydrogenase level (where appropriate), a urine for culture and inspection of a recent stool sample for bile pigmentation. Clinical examination by a paediatrician has a vital role in the screening process. - 16205054
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Neonatal jaundice is commonly encountered and rarely associated with morbidity and mortality.
- The effectiveness of oral tin mesoporphyrin prophylaxis in reducing bilirubin production after an oral heme load in a transgenic mouse model. Biology of the neonate, 2006 [Go to PubMed]
- Neonatal jaundice is commonly encountered and rarely associated with morbidity and mortality. Nonetheless, infants with glucose-6-phosphate dehydrogenase deficiency often have hemolysis (a heme load) caused by an environmental oxidant trigger, thus increasing their risk for serious morbidity. The use of tin mesoporphyrin (SnMP) has been proposed for interdicting the development of severe hyperbilirubinemia in a variety of conditions.
We studied the in vivo effects of prophylactic oral SnMP on heme oxygenase (HO) activity and bilirubin production, as indexed by the excretion rate of carbon monoxide (VeCO), following a subsequent oral heme load.
Adult mice were exposed serially to heme and assessed for in vivo bilirubin production rates, HO-1 transcription and protein, and HO activity. The effect of prophylaxis with a single oral dose of SnMP prior to an oral heme load was assessed by measuring VeCOand tissue HO activities.
After serial heme exposures, VeCO, HO-1 transcription and protein, and liver and spleen HO activities increased incrementally. After pretreatment with oral SnMP, bilirubin production decreased in response to an oral heme load. Also, heme-mediated increases in liver, spleen, and intestine HO activities were significantly dampened.
A single oral dose of SnMP results in durable inhibition of bilirubin production and HO activity for at least 24 h in a mouse model of oral heme loading. Further studies are needed to fully elucidate the duration of this protection against hyperbilirubinemia due to a delayed heme load and any long-term consequences of prophylaxis with SnMP on HO-1 transcription and HO-1 protein. - 14703221
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- Since the Prevalence of severe hyperbilirubinemia among our neonates was relatively high and about half of them required exchange transfusion, early detection of this enzymopathy regardless of sex and close surveillance of the affected newborns may be important in reducing the risk of severe hyperbilirubinemia and exchange transfusion.
- Glucose-6-phosphate dehydrogenase deficiency in neonates. Indian journal of pediatrics, 2003 Nov [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited deficiency that may be the cause of neonatal hyperbilirubinemia, as has been found in several countries and among widely different ethnic groups, especially in Mediterranean region. Our aim was to study the prevalence of G6PD deficiency in relation to neonatal jaundice.
From March 1998 to April 2001 we studied 705 clinically icteric neonates who were admitted to Al-Zahra and Beheshti hospitals, two teaching hospitals in Isfahan, Iran. Laboratory investigations included determination of direct and indirect serum bilirubin concentrations, blood group typing, direct coomb's test, hemoglobin, blood smear, reticulocyte count and G6PD level.
In only 53 (7.5%) of cases G6PD deficiency was diagnosed. In all G6PD deficient neonates no evidence of other factors known to cause hyperbilirubinemia were detected. The sex distribution was 13 (24.5%) females and 40 (75.5%) males in the G6PD deficient group. The mean bilirubin level in G6PD deficient and G6PD normal groups were 22.26 +/- 8.36 and 18.14 +/- 3.85 mg/dl, respectively (p=0.001). Phototherapy was required in G6PD deficient and other icteric neonates with duration of 3.76 +/- 1.93 and 3.13 +/- 2.14 days, respectively (p=0.045). Twenty-seven of the 53 (50.9%) G6PD deficient infants required exchange transfusion. None of them developed kernicterus.
Since the prevalence of severe hyperbilirubinemia among our neonates was relatively high and about half of them required exchange transfusion, early detection of this enzymopathy regardless of sex and close surveillance of the affected newborns may be important in reducing the risk of severe hyperbilirubinemia and exchange transfusion. - 7919613
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- this review we will examine the progress made since that time in our understanding of the pathophysiology of severe NJ associated with G6PD def, its global epidemiology, and its role in the balanced Polymorphism of the G6PD def gene (Gd)
- Severe neonatal jaundice associated with glucose-6-phosphate dehydrogenase deficiency: pathogenesis and global epidemiology. Acta paediatrica (Oslo, Norway : 1992). Supplement, 1994 Mar [Go to PubMed]
- The association of glucose-6-phosphate dehydrogenase deficiency (G6PD def) with severe neonatal jaundice (NJ) and Kernicterus was described just over 30 years ago in reports from Sardinia (1-4) Singapore (5,6) and Greece (7,8). In this review we will examine the progress made since that time in our understanding of the pathophysiology of severe NJ associated with G6PD def, its global epidemiology, and its role in the balanced polymorphism of the G6PD def gene (Gd). Including this review in the Festschrift to Spyros Doxiadis should highlight his contribution to the field. In Greece the search for a new cause of severe NJ and Kernicterus was triggered by his realization that the recognized at the time, causes of severe NJ were absent in a large proportion of the neonates treated at the"
Alexandr"
Maternity Hospital in Athens (9). - 24783083
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- (G6PD) deficient
- Summary
- We showed that in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates, there was no significant association between Gilbert's syndrome (promoter Polymorphism) and hyperbilirubinemia.
- Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects. Journal of clinical and diagnostic research : JCDR, 2014 Mar [Go to PubMed]
- The pathogenesis of neonatal hyperbilirubinemia hasn't been completely defined in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient newborns. The aim of this study was to detect the relationship between Gilbert's syndrome and hyperbilirubinemia in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates.
This case-control study was conducted in Amirkola pediatrics teaching hospital, Babol, Iran. A total number of one hundred four infants were included in the study (51 infants with neonatal jaundice and Gloucose-6-Phosphate Dehydrogenase (G6PD) deficiency admitted to phototherapy or transfusion were selected as the case group and 53 infants with Gloucose-6-Phosphate Dehydrogenase (G6PD) deficiency admitted for other reasons than jaundice were selected as the control group). Exclusion criteria were ABO or Rh incompatibility or other reasons that made Coombs test positive, sepsis, hepatosplenomegaly, metabolic diseases, medical treatment and phototherapy. The promoter and coding regions of Uridine diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) of genomic DNA were amplified by polymerase chain reaction (PCR) isolated from leukocytes. We used chi-square test and t-test to compare cases and controls.
Distribution of Gilbert genome was not significantly different between the two groups; among cases, 33.3% were homozygote, 35.3% heterozygote, and 31.4% normal. Among controls, 22.6% were homozygote, 34% heterozygote, and 43.4% normal (p-value=xxx). Hyperbilirubinemia family history didn't differ significantly between these two groups.
We showed that in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates, there was no significant association between Gilbert's syndrome (promoter polymorphism) and hyperbilirubinemia. - 24997047
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- Higher values of oxidative stress parameters in newborns delivered after fetal distress do not indicate strictly what occurred first-oxidative stress or basic lower G6PD activity.
- Correlation between oxidative stress and G6PD activity in neonatal jaundice. Molecular and cellular biochemistry, 2014 Oct [Go to PubMed]
- Fetal distress represents a pathophysiological condition in which oxygen is not available to the fetus in sufficient quantities. In cases of glucose 6-phosphate dehydrogenase (G6PD) deficiency, under conditions of oxidative stress, the residual G6PD and complimentary antioxidant mechanisms may become insufficient to neutralize the large amounts of ROS and to prevent severe hemolysis. Alteration in the oxidant-antioxidant profile is also known to occur in neonatal jaundice. The study group included 22 neonates presented with fetal distress during labor and 24 neonates with no evidence of fetal distress (control group). Umbilical cord blood samples were taken immediately after delivery, and the following blood tests were carried out after birth and at discharge from the hospital: erythrocyte count, total bilirubin, G6PD activity, and parameters presenting oxidative status [thiobarbituric acid reactive substances (TBARS), NO, O2 (-), H2O2, SOD, CAT, O2 (-)/SOD, and H2O2/CAT]. There were no significant differencs in TBARS and NO values among neonates with or without fetal distress. However, the values of O2 (-), H2O2, SOD, O2 (-)/SOD, and H2O2/CAT among neonates born after fetal distress were significantly higher than in neonates without fetal distress (p < 0.01). In neonates with fetal distress, the total number of RBCs at delivery was significantly lower, accompanied with higher bilirubin content. Also neonates with fetal distress had lower activity of G6PD and lower CAT activity. Higher values of oxidative stress parameters in newborns delivered after fetal distress do not indicate strictly what occurred first-oxidative stress or basic lower G6PD activity.
- 32978
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- G6PD deficiency causes Neonatal jaundice.
- Glucose-6-phosphate dehydrogenase deficiency in Sicily. Incidence, biochemical characteristics and clinical implications. Clinical genetics, 1979 Feb [Go to PubMed]
- This report deals with the incidence, type and clinical implications of G6PD deficiency in Sicily. Of 3347 male subjects examined, 56 were deficient in G6PD. They were distributed throughout the island. The G6PD levels in RBC were almost zero; in leukocytes, platelets and saliva they were found to be 26%, 18% and 16%, respectively, of controls. The Michaelis constant for NADP and G6PD was lower than for controls. Conversely, the utilization of the analogous Ga16P and 2dG6P was higher. The thermostability of the enzyme was lower and the pH optima (6.5 and 9.5) were different from the controls. An identical electrophoretic pattern was found both in normal and deficient subjects. This pattern is superimposable on that described as Mediterranean variant. The analysis among 270 subjects admitted to our Clinic with hemolysis due to G6PD deficiency demonstrated that the most frequent disease is favism, followed by neonatal jaundice, while hemolysis due to drugs is very rare. Ingestion of fresh fava beans was the mot frequent cause of favism, but cases occurred after breast feeding and inhalation of pollen.
- 16329560
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- We have completely characterized the molecular defects of a group of Chinese G6PD deficiency in Malaysia.
- Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates. The Malaysian journal of pathology, 2004 Dec [Go to PubMed]
- We performed DNA analysis on cord blood samples of 128 Chinese male neonates diagnosed as G6PD deficiency in Hospital Universiti Kebangsaan Malaysia by a combination PCR-restriction enzyme digest technique, Single Stranded Conformation Polymorphism analysis and DNA sequencing. We found 10 different G6PD-deficient mutations exist. The two commonest alleles were G6PD Canton 1376 G>T (42.3%) and Kaiping 1388 G>A (39.4%) followed by G6PD Gaohe 592 G>A (7.0%), Chinese-5 1024 C>T, Nankang 517 T>C (1.5%), Mahidol 487 G>A (1.6%), Chatham 1003 G>T (0.8%), Union 1360 C>T (0.8%), Viangchan 871 G>A (0.8%) and Quing Yang 392 G>T (0.8%). Sixty eight percent (88/125) neonates in this study had neonatal jaundice and 29.7% developed hyperbilirubinemia >250 micromol/l. The incidence of hyperbilirubinemia >250 micromol/l was higher in G6PD Kaiping (43.8%) than G6PD Canton (22%) (p< 0.05). There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean duration of phototherapy between the two major variants. None of the 88 neonates required exchange transfusion. In conclusion we have completely characterized the molecular defects of a group of Chinese G6PD deficiency in Malaysia. The mutation distribution reflects the original genetic pool and limited ethnic admixture with indigenous Malays.
- 23402
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The two cases illustrate the value of characterization of the mutant enzyme whenever unexpected clinical or laboratory results are obtained.
- Glucose 6-phosphate dehydrogenase variants: Gd (+) Alexandra associated with neonatal jaundice and Gd (-) Camperdown in a young man with lamellar cataracts. The Journal of laboratory and clinical medicine, 1978 Feb [Go to PubMed]
- Two male subjects are described, with unusual clinical presentations and with hitherto undescribed G6PD variants. The first, of Italian extraction, suffered from severe neonatal jaundice following maternal ingestion of fresh broad beans (Vicia fava) both prenatally and postnatally: the expression of the enzymatic defect was much more severe in the neonatal period than on retesting in adolescence, when biochemical characterization showed unique features which justify designation as a new variant Gd(+) Alexandra. The second patient, a boy of Maltese extraction who was found to have bilateral lamellar cataracts at the age of 4 years, was identified as G6PD deficient only as a result of a survey of children of Mediterranean origin with unexplained cataract formation; he has approximately 15% of normal enzyme activity, with another unique combination of biochemical characteristics which has led to its designation as Gd(-) Camperdown. Although this association may be coincidental, it prompts further attention to te possibility that under certain circumstances G6PD deficiency may favor cataract formation. The two cases illustrate the value of characterization of the mutant enzyme whenever unexpected clinical or laboratory results are obtained.
- 25079187
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- G6PD deficiency can be highly variable in its clinical presentation, so it is necessary to keep it in mind during the Diagnosis of hemolytic anemia at any age.
- [Glucose-6-phosphate dehydrogenase deficiency in children: A Case report]. Revista chilena de pediatría, 2014 Feb [Go to PubMed]
- Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is the most common red blood cell (RBC) enzyme disorder. The decrease as well as the absence of the enzyme increase RBC vulnerability to oxidative stress caused by exposure to certain medications or intake of fava beans. Among the most common clinical manifestations of this condition, acute hemolysis, chronic hemolysis, neonatal hyperbilirubinemia, and an asymptomatic form are observed.
To analyze the case of a child who presented hemolytic crisis due to favism.
A 2 year and 7 month old boy with a history of hyperbilirubinemia during the newborn period with no apparent cause, no family history of hemolytic anemia or parental consanguinity. He presented a prolonged neonatal jaundice and severe anemia requiring RBC transfusion. An intake of fava beans 48 h prior to onset of symptoms was reported. G6PD qualitative determination was compatible with this enzyme deficiency.
G6PD deficiency can be highly variable in its clinical presentation, so it is necessary to keep it in mind during the diagnosis of hemolytic anemia at any age. - 9104069
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- It is logical to look into the current practice in some hospitals in China where herbs are being used in the treatment of NNJ.
- Traditional Chinese medicine and treatment of neonatal jaundice. Singapore medical journal, 1996 Dec [Go to PubMed]
- Treatment with herbs may increase the risk of neonatal jaundice (NNJ). It is logical to look into the current practice in some hospitals in China where herbs are being used in the treatment of NNJ. It is also the purpose of this study to find out the chemical constituents and actions of the herbs, and the rationale of the treatment.
Twenty reports, from 1973 to 1989, from different parts of China, come in a published book and the paediatric journals written in the Chinese language. The Zhong Yao Da Zi Dian, an encyclopedia of Chinese materia medica, and other books on the pharmacology and applications of Chinese materia medica were also referred to in the study.
Yin-chen (oriental wormwood or Artemisia) was the most commonly used herbs for NNJ (95%). Others were Da-huang (rhubarb or Rheum officinale), Huang-qin (skullcap root or Scutellaria), Gan-cao (licorice or glycyrrhiza) and Huang-lian (goldthread rhizome or Copts chinesis). Huang-lian, which contains the alkaloid berberine, was used in 4 centers (20%). Berberine can cause severe acute hemolysis in babies with G6PD deficiency. Currently, Yin-chen comes as a decoction Artemisia composita and an intravenous preparation. These preparations have potential central nervous system and cardiovascular toxicities.
Chinese herbs have many pharmacological substances and therefore multiple actions. In recent years, Chinese herbs are used in conjunction with"
Wester"
drugs, rendering the study of the effects of herbs on NNJ extremely difficult. The efficacy and safety of phototherapy for NNJ have been firmly established, thus diminishing the need for drug treatment. What is the present day role, therefore, of herbal medicine for NNJ? Is there a place for further research of these herbal medicines? - 9424735
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The Prevalence of G6PD deficiency in Menorca is one of the highest in Spain.
- [Prevalence of glucose-6-phosphate dehydrogenase deficiency in a student population on the island of Menorca]. Sangre, 1997 Oct [Go to PubMed]
- The G6PD deficiency is a red cell enzymopathy very frequent in certain Mediterranean countries. In Menorca (Balearic Islands), a relatively high incidence of favism carried us to study the prevalence of this alteration, taking advantage of the"
Campaign for detection of heterozygous beta-thalassaemia to prevent the homozygous beta-thalassaemi"
that we make annually.
We studied a total of 1139 school boys between 13-14 years old for three consecutive school years. We used the methylene blue as screening test and the deficiency of G6PD was confirmed with enzymatic quantification in the haemolysate. We also analysed the clinical manifestations and studied the relatives.
We have confirmed 11 cases of G6PD deficiency (prevalence of 9.7/1000), all of them native of the island. The clinical manifestations were: in 6 cases (54.5%) no clinical manifestations were found, 5 cases (45.4%) had presented neonatal jaundice and 2 cases (18.2%) had suffered a favism crisis. The study of relatives permitted us to analyse 26 additional samples (17 women and 9 men), detecting in 8 of them (4 women and 4 men) the enzymopathy .
The prevalence of G6PD deficiency in Menorca is one of the highest in Spain. Most of the carriers are asymptomatic, the most important clinical manifestations being the neonatal jaundice and favism. The screening test used is efficient for unmistakable hemizygotes detection. - 8714619
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Infants with NNJ were positive for Glucose 6 Phosphate dehydrogenase (G6PD) deficiency.
- Erythrocyte glucose 6 phosphate dehydrogenase deficiency and neonatal jaundice. JPMA. The Journal of the Pakistan Medical Associat, 1995 Oct [Go to PubMed]
- Four years data from Special Care Baby Unit revealed neonatal jaundice (NNJ) as the commonest cause of hospitalization (1944 cases of NNJ out of 6454 admitted neonates). Majority (47.5%) of babies with NNJ presented between 4-7 days of birth. One hundred and sixty infants with NNJ were positive for Glucose 6 Phosphate dehydrogenase (G6PD) deficiency, of whom 153 were males and 7 females. Eighty five G6PD deficient babies required exchange transfusion and 23 developed bilirubin encephalopathy (BE) of which 7 died.
- 1977848
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Infants on this island are known to have higher incidences of Neonatal hyperbilirubinemia and alpha-thalassemia minor than Caucasians.
- Alpha-thalassemia minor and neonatal hyperbilirubinemia. Journal of the Formosan Medical Association = Taiw, 1990 May [Go to PubMed]
- Infants on this island are known to have higher incidences of neonatal hyperbilirubinemia and alpha-thalassemia minor than Caucasians. In order to investigate the correlation between these two conditions, we collected a total of 110 newborns with alpha-thalassemia minor delivered at the National Taiwan University Hospital during the period from January 1985 through February 1988 for this retrospective study. The infants in the study group were ascertained to have the condition by the presence of Hb Bart's with a concentration from 3% to 13%, in the cord blood. None of them had glucose-6-phosphate dehydrogenase (G6PD) deficiency. For each study infant, two control infants were selected. Criteria for enrollment in the control group were: (1) same sex; (2) absence of G6PD deficiency; and (3) birth time as close as possible to that of the study infant, with the 1st control born before the study infant and the 2nd control after. The timing of bilirubin quantitation was based on clinical judgement of jaundice by te pediatricians and phototherapy was started as indicated. Gestational age, birth weight, and rates of preterm delivery, low birth weight infants and low Apgar scores were comparable between the study and control groups. On day 3 after birth, the incidence of hyperbilirubinemia (bilirubin level over 10 mg/dl) was significantly lower in the study group than in the control group (0.9% vs 9.5%, Fisher's exact probability = 0.0012). However, the difference was not significant later. The incidence of phototherapy was also significantly lower in the study group (20%) than in the control group (31%).(ABSTRACT TRUNCATED AT 250 WORDS)
- 409030
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The possible significance of the findings is discussed.
- Red cell metabolism and severe neonatal jaundice in West Malaysia. Acta haematologica, 1977 [Go to PubMed]
- A study was carried out of 332 babies suffering from severe neonatal jaundice who were admitted to the General Hospital, Kuala Lumpar, Malaysia. Of the 332 neonates, 51 were premature and 281 were full-term babies, 178 (110 Chinese, 58 Malay, 9 Indian and 1 European-Pakistani) had bilirubin levels of 20 mg% or higher, requiring exchange blood transfusion. Of the Chinese neonates, 23 (20.9%) had G6PD deficiency, 9 (8.2%) had Hb Bart's and 2 (1.8%) had an abnormal haemoglobin, one Hb Q and one fetal variant. Among the Malay infants, 10 (17.2%) had G6PD deficiency, 7 (12.1%) had Hb Bart's and 10 (17.2%) had abnormal haemoglobins (four had Hb E trait, one had Hb K and Bart's in addition to Hb E, three had Hb CoSp with Hb Bart's, one had Hb Q and one Hb Tak). One of the nine Indian neonates had G6PD deficiency and one had Hb S trait. The one European-Pakistani baby was a carrier of Hb D Punjab. In addition to G6PD deficiency, abnormal haemoglobins seem to have contributed to the high incidence of severe neonatal aundice in Malaysia. The mean activities of GP, GR and GR after stimulation with FAD were higher, while the mean activity of PK and mean level of reduced glutathione were lower than in normal cord bloods. The percent increase of GR after FAD stimulation was significantly lower; fewer in this group had increases above 20% than in normal cord blood. The possible significance of the findings is discussed.
- 1201235
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Screening for the G6PD deficiency was carried out at the Maternity Division of the Galliera Hospital in Genoa, Italy.
- Glucose-6-phosphate dehydrogenase variants from Italian subjects associated with severe neonatal jaundice. British journal of haematology, 1975 Oct [Go to PubMed]
- Screening for the G6PD deficiency was carried out at the Maternity Division of the Galliera Hospital in Genoa, Italy. Two groups of subjects with hyperbilirubinaemia of non-immunological origin were examined: (a) 302 newborn babies of Sardinian extraction (on cord blood) and (b) 201 newborn babies of south Italian ancestry (on peripheral blood). Among 503 subjects, 43 showed an enzyme deficiency; in 39 the defect was of the Mediterranean type. In one case, previously described, the enzyme was of the A- type. In the remaining cases three different variants were identified. In the present work these three cases, each with severe neonatal jaundice, are reported. Their parents originated from Calabria, from Sardinia and from Sicily. The abnormal enzymes are respectively designated as GdDcbrousse-like,, GdGallura and GdAgrigento.
- 20052779
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- G6PD deficiency
- Summary
- We report a Caucasian neonate with chronic non-spherocytic hemolytic anemia due to a class I G6PD deficiency which caused by missense mutation in exon eight of the G6PD gene was detected (c.827C>T p.Pro276Leu).
- Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency. cancer, 2010 May [Go to PubMed]
- We report a Caucasian neonate with chronic non-spherocytic hemolytic anemia due to a class I G6PD deficiency. A novel mutation missense mutation in exon eight of the G6PD gene was detected (c.827C>T p.Pro276Leu). Bilirubin peaked on day 5 at 24 mg/dl with a conjugated bilirubin of 17 mg/dl. Jaundice resolved within 4 weeks. A detailed work-up failed to reveal other specific factors contributing to cholestasis. Severe hemolytic disease of the newborn may cause cholestasis even in the absence of associated primary hepato-biliary disease.
- 2131769
- G6PD
- downregulation
- Pathogenesis; Unclassified
- Method
- G6PD deficiency
- Summary
- The icteric newborn males have a relative risk of 2.34 times higher than the population in general to be a G6PD deficient,
- [Relative frequency of glucose-6-phosphate dehydrogenase deficiency in jaundiced newborn infants in the metropolitan area of Monterrey, Nuevo León]. Archivos de investigación médica, [Go to PubMed]
- In order to estimate the frequency of G6PD deficiency in the icteric population of the Monterrey metropolitan área (MMA), in the state of Nuevo León, there were studied 829 newborn males were studied. It was found that 13 subjects were deficient of this enzyme, that is equivalent to a frequency of 1.57% and when this frequency was compared with the one that was found an a previous study in a random sample of newborn males (0.66%) no statistical difference was observed, but it was estimated that the icteric newborn males have a relative risk of 2.34 times higher than the population in general to be a G6PD deficient, and this fact suggests the necessity to establish this screening test as a routine for all icteric newborn males, in order to have an opportune detection and an appropriate counselling.
- 933922
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- glucose-6-phosphate dehydrogenase deficiency
- Summary
- Glucose-6-phosphate dehydrogenase deficiency is the common cause of hyperbilirubinaemia.
- The mortality of exchange transfusions. The Medical journal of Australia, 1976 Apr 3 [Go to PubMed]
- A prospective study of the effect and mortality of exchange transfusion was carried out in the Kandang Kerbau Hospital, Singapore. Altogether 140 exchange transfusions were performed on 122 infants. The exchanges were done for hyperbilirubinaemia due to"
idiopathi"
jaundice, ABO haemolytic disease, and glucose-6-phosphate dehydrogenase deficiency. Eight infants deteriorated during the exchange, in three of whom the procedure had to be terminated prematurely. Two deaths occurred two days after the exchange--the procedure being partly responsible in one case; necrotizing enterocolitis was present in addition to the kernicterus. Exchange transfusion is not without hazards, and should be performed carefully with close monitoring of the clinical status of the infant during and immediately after the procedure. - 16753852
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia.
- G6PD deficiency with hemolytic anemia due to a rare gene deletion--a report of the first case in Malaysia. Hematology (Amsterdam, Netherlands), 2006 Apr [Go to PubMed]
- A 2-year-old Chinese boy was referred to Hospital UKM for investigation of recurrent episodes of dark-coloured urine and pallor since birth. He was born prematurely at 34 weeks gestation and developed severe early-onset neonatal jaundice requiring exchange blood transfusion. Screening at birth showed Glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination revealed pallor, jaundice and mild hepatomegaly. Results of laboratory investigations showed a hemoglobin level of 11.0 g/dl with a hemolytic blood picture, reticulocytosis of 20% and red cell G6PD activity reported as undetectable. The patient's DNA was analysed for G6PD mutations by PCR-based techniques and DNA sequencing and results showed a 24 bp deletion of nucleotide 953-976 in the exon 9 of the G6PD gene. DNA analysis was also performed on blood samples of the patient's mother and female sibling confirming their heterozygous status, although both showed normal red cell G6PD activity levels. The patient was discharged wll and his parents were appropriately advised on the condition and the importance of taking folic acid regularly. This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia. The rare 24 bp deletion causes the G6PD Nara variant, previously reported only in two other unrelated males, a Japanese and a Portuguese both with chronic hemolytic anemia.
- 11275655
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Full-term neonates who lose a significant amount of weight are especially at risk of significant hyperbilirubinemia and must be treated with ad libitum feeding and intensive phototherapy.
- Prevention of bilirubin encephalopathy. Biology of the neonate, 2001 [Go to PubMed]
- Prevention of bilirubin encephalopathy is based on the detection of infants at risk of developing a significant hyperbilirubinemia. This task can be accomplished by performing a simple umbilical cord blood test, such as blood group, Rh, Coombs' test and glucose-6-phosphate dehydrogenase, in order to detect hemolytic diseases. In preterm infants, the prevention of hyperbilirubinemia with phototherapy is a relatively simple task, since these infants are cared for in hospital. Early hospital discharge of full-term neonates represents a major concern. The management of neonatal jaundice requires that therapy begins when total serum bilirubin levels are significantly below the levels at which kernicterus is considered an immediate threat. Unfortunately, determination of serum bilirubin is a painful procedure, and is not very accurate since there is a high variability in laboratory measurements. The accuracy and precision of a new transcutaneous bilirubin measurement, comparable to the standard of care laboratory est, makes the daily evaluation of transcutaneous bilirubin measurement a useful tool in distinguishing physiological from nonphysiological hyperbilirubinemia, and determining the bilirubin increment in the first days of life. Full-term neonates who lose a significant amount of weight are especially at risk of significant hyperbilirubinemia and must be treated with ad libitum feeding and intensive phototherapy.
- 7653979
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Maloprim, fava beans, sulphur drugs and aspirin were cited as triggering factors.
- Prevalence of G6PD deficiency among recruits in the Singapore Armed Forces. Annals of the Academy of Medicine, Singapore, 1995 Mar [Go to PubMed]
- Between 1986 and 1990, 107,397 National Servicemen between the ages of 17 to 18 years were screened on enlistment for Glucose-6-Phosphate Dehydrogenase (G6PD) enzyme activity by fluorescent spot test. The overall prevalence rate was 1.6% with ethnic differences as follows: 1.62% for Chinese, 1.80% for Malay, 0.76% for Indian and 0.68% for other races. The majority had no prior knowledge of their G6PD deficiency status (89.9%), or of any significant haemolytic episode (93.3%). The rest gave a history of neonatal jaundice, non-neonatal jaundice, anaemia and haemoglobinuria. Maloprim, fava beans, sulphur drugs and aspirin were cited as triggering factors.
- 807541
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- This defect probably contributes to the unconjugated hyperbilirubinemia in these newborns.
- D-Glucaric acid excretion in newborns with severe jaundice of unknown etiology and due to glucose-6-phosphate dehydrogenase deficiency in Greece. Helvetica paediatrica acta, 1975 Jul [Go to PubMed]
- The urinary D-glucaric acid of 86 full-term newborns was determined on the 10th day of life. Of these, 28 had jaundice due to glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, 24 jaundice of unknown etiology and 18 Rhesus incompatibility. Practically all the cases of the first two groups had a greatly decreased D-glucaric acid excretion whereas this was not a constant finding in the 18 cases with Rh-incompatibility. Normal values were found in 16 healthy controls of the same age. These findings suggest that in severe neonatal jaundice due to G-6-PD deficiency and in jaundice of unknown etiology, there is a greatly reduced excretion of endogenously formed D-glucaric acid, due probably to decreased activity of liver enzymes involved in the metabolism of glucuronic acid. This defect probably contributes to the unconjugated hyperbilirubinemia in these newborns.
- 15000734
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Interventions in adolescent girls could be of particular importance, as they could break the cycle in both pregnant women and their infants.
- Haematological profiles of the people of rural southern Malawi: an overview. Annals of tropical medicine and parasitology, 2004 Jan [Go to PubMed]
- An integrative review of the results of two published and two unpublished studies of anaemia in children, adolescent females, pregnant women and adults living in southern Malawi is presented. Anaemia was universally present in all age-groups, with the higher prevalences in infants (100%) and adolescent primigravidae (93.8%). Nutritional deficits of iron and vitamin A were major contributory factors but chronic malarial haemolysis also significantly contributed to the anaemia. Among boys, anaemia was more common among those with glucose-6-phosphate-dehydrogenase (G6PD) deficiency than in those without this deficiency (P<0.002). This enzymopathy, which occurred in 23.5% [95% confidence interval (CI)=16.7%-30.1%] of the male and 30% (CI=17.3%-42.7%) of the female infants examined, was also associated with neonatal jaundice. The overall prevalences of the-alpha(3.7)/alphaalpha and -alpha(3.7)/-alpha(3.7) thalassaemia genotypes were estimated at 41.0% (CI=28.3%-53.7%) and 8.7% (CI=1.5%-15.9%), respectively. Haemoglobin AS was present in 18.1% (CI=12.8%-23.4%) of the infants and haemoglobin SS in 2.5% (CI=1.4%-3.6%). As the prevalence of infection with Plasmodium falciparum was significantly higher in infants with haemoglobin AS than in those with AA (21.4% v. 6.7%; P<0.001), an increased risk of early-onset moderate parasitaemias in young infants probably stimulates the development of immunity, protecting older heterozygotes from severe malarial infection. Innovative community approaches are required to break the cycle of ill health that anaemia supports in those living in rural areas of southern Malawi. Interventions in adolescent girls could be of particular importance, as they could break the cycle in both pregnant women and their infants.
- 11146567
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The Seattle, and probably the Montalbano, variant appears to have a milder clinical expression.
- Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency. Haematologica, 2001 Jan [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocytic enzymatic disorder in Italy and is characterized by wide clinical, biochemical and molecular variability. We studied the clinical and hematologic data from 54 G6PD-deficient, unrelated males from the Apulia region.
Analyses for enzymatic activity, G6PD electrophoresis and molecular typing were performed on all subjects. Thirty-nine subjects (72.2%) showed a severe G6PD deficiency (<10% residual enzymatic activity) and 15 subjects (27.8%) a moderate deficiency (10--60% residual activity).
The Mediterranean variant was found in 48.2% of cases, the Seattle variant in 33.3%, the A- variant in 7.45% and the Montalbano variant in 3.7%; the variant was not identified in four subjects. Thirty-two patients (59.2%) were asymptomatic; of these, 37.04% demonstrated acute hemolytic crises induced mainly by ingestion of fava beans and 3.7% had had neonatal jaundice. Acute hemolytic anemia was found in 53.8% of subjects with the Mediterranean variant, in 5.5% with the Seattle variant, in 100% with the A-variant and 0% with the Montalbano variant.
Enzymatic activity was shown to be a poor predictive parameter of acute hemolytic crises and was not correlated with clinical features. Subjects with Mediterranean or A- variants had a more severe clinical phenotype which was not related to enzymatic activity. The Seattle, and probably the Montalbano, variant appears to have a milder clinical expression. - 15727905
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Our findings provide some evidence that G6PD Viangchan and Mahidol are common Southeast Asian variants and support the theory of genetic drifts throughout Southeast Asia.
- Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind). diseases, [Go to PubMed]
- Two hundred and twenty-five G6PD-deficient subjects in Songklanagarind Hospital in the south of Thailand comprising 210 males and 15 females were studied. Neonatal jaundice was detected in 85% of these patients. Acute hemolysis related to infection was detected in 17.3% of the G6PD-deficient subjects. Drug-induced acute hemolysis was detected in 1.8% and favism was observed in 3.6% of G6PD-deficient patients. The molecular analysis was performed on 134 G6PD-deficient individuals by a combination of PCR-RFLP, multiplex polymerase chain reaction by multiple tandem forward primers and a common reverse primer assay (MPTP) and DNA sequencing to characterize the mutations of the samples with abnormal MPTP bands. We found 10 different missense G6PD mutations and the three most common variants were G6PD Viangchan 871,G-->A (31.3%), G6PD Kaiping 1388,G-->A (20.1%) and G6PD Mahidol 487,G-->A (17.2%) followed by G6PD Canton 1376,G-->T (9.7%), G6PD Union 1360,C-->T (2.2%), G6PD Gaohe 95,A-->G (1.5%), G6PD Quing Yuan 392,G-->T (0.7%), G6PD Mediterranean 563,C-->T (0.7%), G6PD Songklanagarind 196,T-->A (0.7%), silent mutation 1311,C-->T (6.7%), and uncharacterized variant (9%). A novel missense mutation at codon 196, TTC-->ATC in exon 4 of the G6PD gene predicting a single amino acid substitution, Phe66Ile was identified and we designated this novel class II variant as G6PD Songklanagarind. The G6PD variants among the Thais in the southern part are heterogeneous and G6PD Viangchan, Kaiping, Mahidol, and Canton variants account for about 78% of the cases. Our findings provide some evidence that G6PD Viangchan and Mahidol are common Southeast Asian variants and support the theory of genetic drifts throughout Southeast Asia.
- 7393270
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Controlled clinical trials of vitamin E supplementation may be warranted to examine its efficacy in ameliorating acute hemolytic crises or in reducing morbidity from Neonatal jaundice in this relatively common enetic disorder.
- Reduced chronic hemolysis during high-dose vitamin E administration in Mediterranean-type glucose-6-phosphate dehydrogenase deficiency. The New England journal of medicine, 1980 Aug 21 [Go to PubMed]
- The observation that high-dose oral vitamin E supplementation (800 IU per day) improved red-cell survival in two rare disorders associated with increased red-cell susceptibility to oxidative stress prompted a similar trial in 23 patients with Mediterranean glucose-6-phosphate dehydrogenase (G6PD) deficiency. Three months of vitamin E administration resulted in decreased chronic hemolysis as evidenced by improved red-cell life span (P less than 0.025), with an improvement in red-cell half-life from 22.9 +/- 0.7 days to 25.1 +/- 0.6 days (mean +/- S.E.M.), increased hemoglobin concentration (P less than 0.001), and decreased reticulocytosis (P less than 0.001) as compared with base-line values. Evaluation after one year of vitamin E administration demonstrated sustained improvement in all these indexes. Controlled clinical trials of vitamin E supplementation may be warranted to examine its efficacy in ameliorating acute hemolytic crises or in reducing morbidity from neonatal jaundice in this relatively common enetic disorder.
- 7472840
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- On the basis of these measurements, hemolysis is not a sufficient explanation for jaundice in G6PD-deficient newborn infants in the transitional period.
- Role of hemolysis in neonatal jaundice associated with glucose-6 phosphate dehydrogenase deficiency. The Journal of pediatrics, 1995 Nov [Go to PubMed]
- End-tidal carbon monoxide was measured in 108 newborn infants who had been screened for glucose-6-phosphate dehydrogenase (G6PD) deficiency. The mean +/- SD end-tidal carbon monoxide did not differ significantly between the G6PD-deficient and the normal neonates, 2.1 +/- 0.6 microliters/L and 2.0 +/- 0.5 microliters/L, respectively, within 12 hours of birth and 1.9 +/- 1.4 microliters/L and 1.5 +/- 0.7 microliters/L, respectively, at 48 to 72 hours after birth. On the basis of these measurements, hemolysis is not a sufficient explanation for jaundice in G6PD-deficient newborn infants in the transitional period.
- 22690313
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- More severe jaundice (especially for gestational age) occurring in pre-term babies requires critical care.
- Comparative analysis of glucose-6-phosphate dehydrogenase levels in pre-term and term babies delivered at University of Ilorin Teaching Hospital. Pediatric reports, 2012 Jan 2 [Go to PubMed]
- Glucose-6-phosphate (G6P) is an enzyme in the hexose monophosphate shunt required for the production of reducing equivalents needed to mop up free radicals. thereby keeping hemoglobin in its free state. Deficiency of the enzyme can cause severe neonatal jaundice. The aim of this study was to compare G6PD levels in pre-term and term babies, and evaluate the extent to which G6PD deficiency determines the severity of jaundice in various gestational age groups. Samples of cord blood collected from consecutively delivered babies in the University of Ilorin Teaching Hospital, Nigeria, were assayed for G6PD levels, and the babies were observed for jaundice during the first week of life. Those who developed jaundice had serial serum bilirubin measured. Nine hundred and thirty-three babies had G6PD assayed, with 348 being G6PD deficient, giving a hospital based prevalence of 37.3%. Of the 644 who were followed up, 143 (22.2%) were pre-term and 501(77.8%) were term babies. Babies with gestational age (GA) 27-29 weeks ad the highest G6PD levels. However, there was no significant variation among the different gestational age groups (F=0.64, P=0.64). Jaundice occurred more in pre-term compared to term babies with a relative risk of 2.41 (χ(2)=60.95, P=0.00001). Occurrence of jaundice in pre-term babies was irrespective of G6PD status (χ(2)=0.2, P=0.66, RR=1.09, CI=0.83
- 1511180
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- There is some emerging evidence that the genetic burden or survival value associated with G6PD deficiency may be relevant not only in tropical and infectious diseases, but also in their chemotherapy (e.g. malaria) as well as in the control of a long-recognized environmental pollutant such as lead.
- Glucose-6-phosphate dehydrogenase deficiency. Baillière's clinical haematology, 1992 Apr [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. Because its gene locus is on the X-chromosome it is more common in males than females in all populations. Prevalence rates vary from 62% among Kurdish Jews to the very low rates (0.1% or less in Japan, for example), which are compatible with sporadic cases arising from spontaneous mutations. However, there is at least one population in which G6PD deficiency has not been found, namely the indigenous (Amerindian) population of America. Approximately 400 variants have been described. Despite the clinical burden imposed by this enzymopathy, polymorphic frequencies have been reached in many populations. There is abundant epidemiological evidence that this has happened because of a biological advantage conferred on heterozygotes in falciparum malaria endemic areas. This advantage may apply to quartan malaria as well. Clinical severity varies, from the rare chronic nonspherocytic haemolytic anaemia to progressively milder form like the Mediterranean and A- types. The other clinical syndromes, i.e. neonatal jaundice and haemolysis caused by infections, foods, drugs and chemicals, are not always predictable. This is because only a fraction of such enzymopathic persons develop these syndromes after exposure to the relevant stimulus. Modern techniques of molecular biology may elucidate why this is so. There is some emerging evidence that the genetic burden or survival value associated with G6PD deficiency may be relevant not only in tropical and infectious diseases, but also in their chemotherapy (e.g. malaria) as well as in the control of a long-recognized environmental pollutant such as lead.
- 19904460
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- There is better correlation among individuals presenting with chronic non-spherocytic haemolytic anaemia, which is related to the NADP structure of the enzyme.
- Glucose-6-phosphate dehydrogenase deficiency: correlation between the genotype, biochemistry and phenotype. Annals of the Academy of Medicine, Singapore, 2008 Dec [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic enzyme defect present in many people from African, Middle Eastern, Mediterranean and Asian countries. Individuals with the enzyme deficiency may remain asymptomatic, develop an acute haemolytic crises to infections or Fava beans, neonatal jaundice or chronic non-spherocytic haemolytic anaemia. Electrophoretic mobility may be fast, slow or normal. Over 160 mutations have been described, mostly due to single amino acid substitution. Although correlation of the genotype and biochemistry with the clinical phenotype of G6PD deficient individuals remains somewhat variable, there is better correlation among individuals presenting with chronic non-spherocytic haemolytic anaemia, which is related to the NADP structure of the enzyme.
- 6626633
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- NA
- Moderately increased hemolysis in newborn infants with hyperbilirubinemia of unknown etiology. Biology of the neonate, 1983 [Go to PubMed]
- Serial determinations of carboxyhemoglobin (COHb) levels were performed in full-term newborn infants during the first few days of life and their mothers. A close correlation was found between COHb in the mother and that determined in the cord blood. The correlation between COHb in the mother at delivery and that found in the neonate disappeared after 48 h of life. The determination of COHb after this period demonstrated significantly higher values of COHb levels in jaundiced neonates compared with normal infants. Determinations of erythrocyte age-dependent enzyme activities carried out at birth and after 5 days of life did not demonstrate any significant difference between the mean values in jaundiced and normal infants. However, the normal infants demonstrated a decrease of glucose-6-phosphate dehydrogenase and pyruvate-kinase activities from birth to the 5th day which is not appreciable in neonates with hyperbilirubinemia of unknown etiology. The results are discussed in relation to the role of hemolysis i neonatal hyperbilirubinemia.
- 18165833
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Clostridium difficile infection precipitating hemolysis in glucose-6-phosphate dehydrogenase-deficient preterm twins causing severe neonatal jaundice. Journal of perinatology : official journal of the , 2008 Jan [Go to PubMed]
- The incidence of glucose-6-phosphate dehydrogenase deficiency in neonates of immigrant mothers in Canada is increasing. Newborn screening programs in Canada do not screen for this disorder. Infants with G-6-PD deficiency may develop jaundice resulting in kernicterus with devastating sequelae. In this case report, we speculate that Clostridium difficile infection may have triggered severe jaundice in G-6-PD-deficient neonates.
- 17611006
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The severe mutations mostly affect residues at the dimer interface or tose that interact with a structural NADP molecule that stabilizes the enzyme.
- G6PD deficiency: the genotype-phenotype association. Blood reviews, 2007 Sep [Go to PubMed]
- Deficiency of glucose-6-phosphate dehydrogenase is a very common X-linked genetic disorder though most deficient people are asymptomatic. A number of different G6PD variants have reached polymorphic frequencies in different parts of the world due to the relative protection they confer against malaria infection. People, usually males, with deficient alleles are susceptible to neonatal jaundice, and acute hemolytic anemia, usually during infection, after treatment with certain drugs or after eating fava beans. Very rarely de novo mutations can arise causing the more severe condition of chronic nonspherocytic hemolytic anemia. Altogether 160 different mutations have been described. The majority of mutations cause red cell enzyme deficiency by decreasing enzyme stability. The polymorphic mutations affect amino acid residues throughout the enzyme and decrease the stability of the enzyme in the red cell, possibly by disturbing protein folding. The severe mutations mostly affect residues at the dimer interface or tose that interact with a structural NADP molecule that stabilizes the enzyme.
- 15226563
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- At the molecular level, G6PD Mediterranean is the most common deficient variant in the caste groups whereas, G6PD Orissa is more prevalent among the tribal of India. The third common variant seen in India is G6PD Kerala-Kalyan.
- Glucose-6-phosphate dehydrogenase deficiency in India. Indian journal of pediatrics, 2004 Jun [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest red cell enzymopathy in humans and has an X-linked inheritance. It has been reported from India more than 30 years ago and the prevalence varies from 0-27% in different caste, ethnic and linguistic groups. The major clinical manifestations are drug induced hemolytic anemia, neonatal jaundice and chronic non-spherocytic hemolytic anemia. Individuals with G6PD deficiency have a selective advantage against falciparum malaria. Thirteen biochemically characterized variants have been reported from India. At the molecular level, G6PD Mediterranean is the most common deficient variant in the caste groups whereas, G6PD Orissa is more prevalent among the tribal of India. The third common variant seen in India is G6PD Kerala-Kalyan.
- 15319464
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- The incidence of severe Neonatal hyperbilirubinemia is higher in Asians than in whites.
- Risk factors for severe hyperbilirubinemia in neonates. Pediatric research, 2004 Nov [Go to PubMed]
- The incidence of severe neonatal hyperbilirubinemia is higher in Asians than in whites. A case-control study was designed to investigate the effects of eight known risk factors [breast feeding, ABO incompatibility, premature birth, infection, cephalohematoma, asphyxia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and variant UDP-glucuronosyltransferase 1A1 (UGT1A1) gene] and a suspicious analog [organic anion transporter 2 (OATP 2) gene] on severe hyperbilirubinemia in Taiwanese neonates. The 72 study subjects and 100 hospital control subjects consisted of neonates with peak serum bilirubin levels > or =342 microM and <256.5 microM, respectively. The PCR-restriction fragment length polymorphism method was applied to detect the UGT1A1, OATP 2, and G6PD genes. The results of multivariate logistic regressions, adjusted for covariates, revealed odds ratios (ORs) of 4.64 [95% confidence interval (CI): 2.25-9.57; p < 0.001], 3.36 (95% CI: 1.54-7.35; p=0.002), and 3.02 (95% CI: 1.30-6.99; p=0.010) for neonates who were fed with breast milk, and carry the variant UGT1A1 gene at nucleotide 211 and the variant OATP 2 gene at nucleotide 388, respectively. The ORs, adjusted for covariates, for the other six risk factors were not statistically significant. The ORs in neonates who had one, two, and three significant risk factors were 8.46 (95% CI: 2.75-34.48; p < 0.001), 22.0 (95% CI: 5.50-88.0; p < 0.001), and 88.0 (95% CI: 12.50-642.50; p < 0.001), respectively. In conclusion, neonates who carry the 211 and 388 variants in the UGT1A1 and OATP 2 genes, respectively, as well as feed with breast milk are at high risk to develop severe hyperbilirubinemia.
- 15297240
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- Genetic frequency of this deficiency in 2002 was 6% in male and 1% in female newborns.
- [Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood]. Annales de biologie clinique, [Go to PubMed]
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most frequent enzyme deficiency. It is a sex-linked genetic disease concerning mostly african, mediterranean and far-eastern populations. The main clinical expression is a hemolytic anemia which can be acute or chronic. During the neonatal period the disease may manifest as neonatal jaundice. We have been asked by the neonate department to set up a blood screening test for this deficiency. We have therefore developed a test using umbilical cord blood. The assay of G6PD has been automatised and red blood cell aspartate-amino-transferase (ASAT) chosen as a reference enzyme to evaluate the age of red blood cells. Normal values of G6PD, ASAT and G6PD/ASAT ratio have been calculated from 235 cord samples. Genetic frequency of this deficiency in 2002 was 6% in male and 1% in female newborns.
- 22002596
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- We conclude that based on traditional dosage and indication, the use of RC and CP in oral concoction is safe.
- Berberine-induced haemolysis revisited: safety of Rhizoma coptidis and Cortex phellodendri in chronic haematological diseases. Phytotherapy research : PTR, 2012 May [Go to PubMed]
- Two commonly used berberine-containing Chinese herbs, Rhizoma coptidis (RC) and Cortex phellodendri (CP), have been banned in Singapore for the past three decades due to implication of berberine in aggravating jaundice and kernicterus in neonates with glucose-6-phosphate dehydrogenase deficiency. Here we conducted a single arm, phase I/II clinical study on Chinese herbal medicine for patients with chronic cytopenic haematological conditions and we analysed a subset of 20 patients who also had RC, CP or both in their herbal concoction. We found no organ toxicity or electrolyte imbalance in these 20 patients where RC was administered for 1055 patient-days and CP for 1252 patient-days. In three patients with thalassemia intermedia, transient elevation in serum bilirubin level was observed but this was not associated with any aggravation of anaemia or liver dysfunction. A review of the literature found conflicting evidence of varying levels either supporting or refuting the allegation of neonatal jaundice and kenicterus caused by berberine. There were, however, very few clinical reports of adverse reaction attributable to RC or CP in oral TCM concoction. We conclude that based on traditional dosage and indication, the use of RC and CP in oral concoction is safe.
- 8628611
- G6PD
- downregulation
- Diagnosis; Pathogenesis
- Method
- NA
- Summary
- . In regions of the world where there is a high incidence of G6PD deficiency and unexplained hyperbilirubinemia, oxidative hemolysis secondary to the cutaneous application of henna could be the initiating event.
- Henna: a potential cause of oxidative hemolysis and neonatal hyperbilirubinemia. Pediatrics, 1996 May [Go to PubMed]
- To evaluate the in vitro oxidation potential of lawsone (2-hydroxy-1,4 naphthoquinone). Lawsone is a chemical present in henna, the crushed leaves of which are used worldwide as a cosmetic agent to stain the hair, skin, and nails.
Venous blood from glucose-6-phosphate dehydrogenase (G6PD)-normal and G6PD A- subjects were incubated with various amounts of lawsone for 2 hours at 37 degrees C. Reduced glutathione and methemoglobin (MHb) levels were measured before and after incubation.
Final molar concentrations of lawsone in normal blood of 1.4, 2.8, 5.7, and 8.6 x 10-3 mol/L increased MHb percentages from 0.5% to 2.2%, 8.3%, 9.5% and 12.5%, respectively. In a C6PD A- blood, MHb percentages were 19.8%, 32.2%, 44.9%, and 53.9%. At a lawsone concentration of 2.8 x 10-3 mol/L, blood from 15 healthy adults formed MHb percentages of 7.4% +/- 3.3% (+/- 1 SD); in blood from 4 G6PD A- adults, percentages were 44.5%, 40.6%, 41.3%, and 42.8%. Simultaneous measurements of reduced glutathione revealed preincubation values of greater than 40 mg/100 mL of red cells in blood of healthy and G6PD A- subjects. Postincubation values were greater than 40 in blood of healthy subjects and less than 40 in blood of G6PD A- subjects.
These in vitro observations indicate that lawsone is an agent capable of causing oxidative hemolysis. In regions of the world where there is a high incidence of G6PD deficiency and unexplained hyperbilirubinemia, oxidative hemolysis secondary to the cutaneous application of henna could be the initiating event.
170 pubmed articles have reported G6PD downregulation associated with Neonatal Jaundice.