Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Signs & Symptoms

Usually asymptomatic. Acute hemolysis with hemoglobinuria in response to oxidative stress, neonatal jaundice.

Risk Factors

Mainly West Africans, Mediterraneans, Middle Easterns and Southeast Asians.

Causes

Sex-linked.

Peripheral blood characteristics

In crises: contracted and fragmented cells, bite cells and blister cell with Heinz bodies.

Important investigations & related results

Direct enzyme assay on red cells.

Treatment & management

Treat underlying cause. Blood transfusion for severe anemia.

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