Article
A novel G6PD mutation leading to chronic hemolytic anemia.
Pediatric blood & cancer - 1 Dec 2008
McDade Jenny, Abramova Tatiana, Mortier Nicole, Howard Thad, Ware Russell E
Abstract excerpt
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...
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