Hereditary glucose-6-phosphate dehydrogenase deficiency in newborn infants]

Early diagnosis of the deficiency of glucose 6-phosphate dehydrogenase was made in examining 428 samples of funic blood from 230 boys and 198 girls. The normal level of the enzyme activity was established in red blood cells of the healthy newborn with regard to the national and sexual differences. The hereditary character of the deficiency of glucose 6-phosphate dehydrogenase was supported in 37 neonates by analyzing the pedigrees. The enzyme deficiency was associated with different forms of hemoglobinopathies: alpha- and beta-thalassemia, structurally abnormal hemoglobin S and methemoglobinemia. The considerable prevalence of the deficiency of glucose 6-phosphate dehydrogenase was revealed in Azerbaijan for the first time. The phenotypic frequency amounted to 8.64% whereas the gene one to 0.0623.     

Hemolysis in a glucose-6-phosphate dehydrogenase-deficient boy with rheumatic fever

Summary A 12-year-old black boy with the A type of glucose-6-phosphate dehydrogenase (G6PD) deficiency had a hemolytic episode concurrent with acute rheumatic fever. Aspirin nevertheless remains the drug of choice for acute rheumatic fever even in the A type of G6PD deficiency.     

Differing pathogenesis of perinatal bilirubinemia in glucose-6-phosphate dehydrogenase-deficient versus-normal neonates

The objective was to compare the contribution to perinatal bilirubinemia of hemolysis and UDP-glucuronosyltransferase (UGT) gene promoter polymorphism, seen in Gilbert's syndrome, between glucose-6-phosphate dehydrogenase (G-6-PD)-deficient and -normal neonates. Serum total bilirubin (STB) values from 52 G-6-PD-deficient and 166 G-6-PD-normal term, male neonates, sampled within 3 h of delivery (first sample) and on d 3 (second sample), were analyzed in relation to blood carboxyhemoglobin corrected for inspired CO (COHbc), an accurate index of hemolysis, and UGT promoter genotype. COHbc values (% total Hb) were greater in G-6-PD-deficient neonates than controls: first sample 1.00 +/- 0.25% versus 0.84 +/- 0.24%, p < 0.0001; second sample 0.83 +/- 0.20% versus 0.76 +/- 0.19%, p = 0.002. First sample COHbc and STB values did not correlate in either the G-6-PD-deficient or control groups, whereas second sample COHbc values correlated significantly with corresponding STB values in the control population only (r = 0.28, p = 0.0007). At second sampling, there was a higher allele frequency of the variant UGT promoter among those with STB values > or =75th percentile than those <75th among the G-6-PD-deficient neonates (0.60 versus 0.33, respectively, p = 0.025), but not controls (0.31 versus 0.40, respectively, p = 0.24). Among those infants with at least one variant UGT promoter allele, STB values were higher in the G-6-PD-deficient neonates than controls at second sampling only (181 +/- 56 microM versus 149 +/- 46 microM, respectively, p = 0.03). Both within and between the G-6-PD-deficient and control groups, our data demonstrate changing and differing contributions of hemolysis and UGT promoter polymorphism to bilirubinemia during the first 3 d of life.     

Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes.

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.     

Increase of F cells during acute hemolysis in glucose-6-phosphate dehydrogenase-deficient males

Five male Sicilian children with glucose-6-phosphate dehydrogenase deficiency were studied shortly after hemolytic crisis in order to evaluate the immediate effects of massive hemolysis on fetal Hb (HbF) levels and the number of circulating F cells. Hematological values seen 4 months after the children recovered from the crisis were considered representative of the patients' steady state. All patients had an increase in HbF levels (2.26 +/- 0.24%) and F cell number (29 +/- 4.79%) in the acute phase and their HbF values and F cells returned to normal range at control. Globin synthesis was balanced in the peripheral blood and bone marrow and there was a small peak of gamma chains. Globin chain electrophoresis showed that both G gamma and A gamma genes were active in all patients. These results confirm that hemolytic stress produces increased F cell release in peripheral blood. Such release is rapid enough (less than 72 h) to be consistent with the hypothesis of an induction of HbF synthesis in late erythroid precursors.     

Massive acute haemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient preterm triplets

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.     

Henna causes life threatening haemolysis in glucose-6-phosphate dehydrogenase deficiency

Haemolytic crisis in glucose-6-phosphate dehydrogenase deficient individuals following topical application of henna occurred in four children: a female neonate (haemoglobin 50 g/l, serum bilirubin 700 micromol/l), who recovered after exchange transfusion; a male infant (haemoglobin 28 g/l) who died despite transfusion; and two preschool children (haemoglobin 40 and 41 g/l respectively).     

Enzyme activity of glucose-6-phosphate dehydrogenase-deficient Malaysian neonates during the first 10 days of life

Objective: The objective of this study was to determine the degree of severity of enzyme deficiency in glucose-6-phosphate dehydrogenase (G6PD)-deficient Malaysian neonates as part of an effort to identify risk factors associated with severe hyperbilirubinaemia in G6PD-deficient infants.
Methodology: During this study, enzyme activity was measured in 53/59 (89.8%) hospital-diagnosed G6PD-deficient neonates (34 Malays, 12 Chinese, and seven other ethnic groups) born consecutively in the Kuala Lumpur Maternity Hospital. All neonates, except one, were males.
Results: The mean level of enzyme activity of the 52 males G6PD-deficient neonates (0.47 iu/g Hb, 95% confidence intervals: 0.37, 0.57) was less than 10% of that of normal Malaysian male neonates. The enzyme activity of the only female G6PD-deficient infant, at 1.11 iu/g Hb, was 12.5% of the mean G6PD enzyme activity of normal females.
Conclusion: Our results showed that G6PD deficiency in Malaysian neonates predominantly affects males and is usually severe.     

Henna causes life threatening haemolysis in glucose-6-phosphate dehydrogenase deficiency.

Haemolytic crisis in glucose-6-phosphate dehydrogenase deficient individuals following topical application of henna occurred in four children: a female neonate (haemoglobin 50 g/l, serum bilirubin 700 micromol/l), who recovered after exchange transfusion; a male infant (haemoglobin 28 g/l) who died despite transfusion; and two preschool children (haemoglobin 40 and 41 g/l respectively).     

Photooxidant injury to glucose-6-phosphate dehydrogenase-deficient erythrocytes with bilirubin as the sensitizer—an in vitro study

To evaluate the hypothesis that glucose-6-phosphate dehydrogenase (G6PD)-deficient erythrocytes are more prone to photooxidant injury with bilirubin as the sensitizer, we compared the malonyl dialdehyde (MDA) levels and haematocrit values in 11 G6PD-deficient samples with a bilirubin: albumin molar ratio of 1:2 (10mg% bilirubin, 2.5 g % albumin) photoexposed at 6 μW cm^-2nm^-2(420–460 nm), with 11 of control samples. Twelve hours after photoexposure the incremental changes in MDA levels (OD units) were higher in G6PD-deficient samples [mean (SE) = 0.230 (0.171) vs 0.075 (0.043), p > 0.01]. Antioxidant drugs may have a protective role while G6PD-deficient neonates undergo phototherapy.