Low glucose-6-phosphate dehydrogenase enzyme activity level at the time of hemolysis in a male neonate with the African type of deficiency

Blood Cells Mol Dis. 2001 Sep-Oct;27(5):918-23. doi: 10.1006/bcmd.2001.0467.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Black or African American
  • Genetic Variation
  • Gilbert Disease / blood
  • Gilbert Disease / complications
  • Gilbert Disease / genetics
  • Glucosephosphate Dehydrogenase / blood*
  • Glucosephosphate Dehydrogenase / genetics
  • Glucosephosphate Dehydrogenase Deficiency / blood
  • Glucosephosphate Dehydrogenase Deficiency / complications
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Glucuronosyltransferase / genetics
  • Hemolysis / genetics*
  • Humans
  • Infant, Newborn
  • Jaundice, Neonatal / blood
  • Jaundice, Neonatal / enzymology
  • Jaundice, Neonatal / genetics
  • Male
  • Promoter Regions, Genetic / genetics

Substances

  • Glucosephosphate Dehydrogenase
  • UGT1A1 enzyme
  • Glucuronosyltransferase