Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Signs & Symptoms
Usually asymptomatic. Acute hemolysis with hemoglobinuria in response to oxidative stress, neonatal jaundice.
Mainly West Africans, Mediterraneans, Middle Easterns and Southeast Asians.
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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