Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences

Objectives 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. Case presentation G6PD deficiency was suspected in a six-year-old girl from an Iraqi family with a history of yellowing of skin and darkening of urine after eating broad beans. Besides the patient, G6PD levels were found low in the father and in two sisters who showed no symptoms. The father was found hemizygous and the three sisters were found heterozygous for NM_000402.4c.1093G>A(p.A365T)(6.Ala365Thr) mutation while the mother was normal. Conclusions G6PD enzyme deficiency can be seen in both genders, and it may be presented with different clinical manifestations even within the people having the same mutation.