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Learning objectives Describe glucose-6-phosphate dehydrogenase or G6PD deficiency Management of G6PD deficiency Definition and mechanisms G6PD deficiency is the most common inherited metabolic disorder of red blood cells (RBCs) A genetic X-linked recessive disorder characterized by a lack of G6PD in the blood Caused by mutations in the G6DP gene GD6P protects red blood cells from reactive oxygen species Can cause hemolytic anemia as RBCs are vulnerable to hemolysis 400 million people are globally affected and males are affected more often than females Particularly common in certain parts of Africa, Asia, the Mediterranean area, and the Middle East Affected persons must avoid dietary triggers such as fava beans A spectrum of disease: chronic hemolysis, intermittent hemolysis, hemolysis only with triggers, no hemolysis Signs and symptoms Most individuals with G6PD deficiency are asymptomatic Pale skin Jaundice Dark-colored urine Fever Weakness Dizziness Confusion Trouble with physical activity Enlarged spleen and liver Increased heart rate Heart murmur Triggers Foods: fava beans Medicines: aspirin, quinine, and other antimalarials derived from quinine Mothballs (naphthalene) bacterial and viral infections Diagnosis Complete blood count and reticulocyte count: Heinz bodies can be seen in red blood cells Liver enzymes: to exclude other causes of jaundice Lactate dehydrogenase: elevated in hemolysis Haptoglobin: decreased in hemolysis A direct antiglobulin test (Coombs test): should be negative as hemolysis in G6DP is not immune-mediated Management Suggested reading Cicvari, A., Glava Tahtler, J., Vukoja Vukui, T., Bekavac, I., Kvolik, S., 2022

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