A novel G6PD mutation leading to chronic hemolytic anemia

Pediatr Blood Cancer. 2008 Dec;51(6):816-9. doi: 10.1002/pbc.21715.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Hemolytic / enzymology
  • Anemia, Hemolytic / genetics*
  • Chronic Disease
  • DNA / genetics
  • Exons / genetics
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / complications
  • Glucosephosphate Dehydrogenase Deficiency / enzymology*
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Polymerase Chain Reaction

Substances

  • DNA
  • Glucosephosphate Dehydrogenase