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A novel G6PD mutation leading to chronic hemolytic anemia.

Research paper by Jenny J McDade, Tatiana T Abramova, Nicole N Mortier, Thad T Howard, Russell E RE Ware

Indexed on: 05 Aug '08Published on: 05 Aug '08Published in: Pediatric Blood & Cancer



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.