Türk Biyokimya Dergisi (Dec 2021)
Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any loss of its function causes NADPH to cease, leaving erythrocytes susceptible to oxidative damage resulting in acute hemolytic anemia attacks secondary to drugs or infection and favism. Because of X-linked recessive inheritance males are mainly affected. Being heterozygous, females have less severe clinical presentation.
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