Hemolysis and hyperbilirubinemia in an African American neonate heterozygous for glucose-6-phosphate dehydrogenase deficiency.
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.
D044383:Black People / Q000235:genetics*; D002245:Carbon Dioxide / Q000032:analysis*; D005260:Female; D005878:Gilbert Disease / Q000209:etiology*; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000235:genetics* / Q000276:immunology; D006461:Hemolysis; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology*; D001741:Black or African American
D002245:Carbon Dioxide