A novel G6PD mutation leading to chronic hemolytic anemia

• Published in: Pediatric Blood & Cancer Vol. 51; no. 6; pp. 816 - 819
• Main Authors: McDade, Jenny, Abramova, Tatiana, Mortier, Nicole, Howard, Thad, Ware, Russell E.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.12.2008
• Subjects: Anemia, Hemolytic - enzymology; Anemia, Hemolytic - genetics; Chronic Disease; DNA - genetics; Exons - genetics; G6PD deficiency; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase Deficiency - complications; Glucosephosphate Dehydrogenase Deficiency - enzymology; Glucosephosphate Dehydrogenase Deficiency - genetics; hemolytic anemia; Humans; Infant, Newborn; Male; Mutation - genetics; Polymerase Chain Reaction
• ISSN: 1545-5009; 1545-5017; 1096-911X
• DOI: 10.1002/pbc.21715

Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is an important cause of hemolytic anemia worldwide. Severely affected patients have chronic hemolysis with exacerbations following oxidative stress. Mutations causing severe chronic non‐spherocytic hemolytic anemia (CNSHA) commonly cluster in Exon 10, a region important for protein dimerization. An African‐American male presented at age 2 weeks with pallor and jaundice, and was found to have hemolytic anemia with G6PD deficiency. His severe clinical course was inconsistent with the expected G6PD A− variant. DNA sequencing revealed two common mutations (A−) and a third novel Exon 10 mutation. This inherited haplotype represents a novel triple G6PD coding mutation causing chronic hemolysis. Pediatr Blood Cancer 2008;51:816–819. © 2008 Wiley‐Liss, Inc.