Document Detail

Low glucose-6-phosphate dehydrogenase enzyme activity level at the time of hemolysis in a male neonate with the African type of deficiency.
MedLine Citation:
PMID:  11783956     Owner:  NLM     Status:  MEDLINE    
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.
M Herschel; E Beutler
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Blood cells, molecules & diseases     Volume:  27     ISSN:  1079-9796     ISO Abbreviation:  Blood Cells Mol. Dis.     Publication Date:    2001 Sep-Oct
Date Detail:
Created Date:  2002-01-10     Completed Date:  2003-04-17     Revised Date:  2014-03-28    
Medline Journal Info:
Nlm Unique ID:  9509932     Medline TA:  Blood Cells Mol Dis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  918-23     Citation Subset:  IM    
Copyright Information:
(c)2001 Elsevier Science.
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MeSH Terms
African Americans
Genetic Variation
Gilbert Disease / blood,  complications,  genetics
Glucosephosphate Dehydrogenase / blood*,  genetics
Glucosephosphate Dehydrogenase Deficiency / blood,  complications,  genetics*
Glucuronosyltransferase / genetics
Hemolysis / genetics*
Infant, Newborn
Jaundice, Neonatal / blood,  enzymology,  genetics
Promoter Regions, Genetic / genetics
Grant Support
Reg. No./Substance:
EC Dehydrogenase; EC 2.4.1.-/UGT1A1 enzyme; EC

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