Glucose 6-Phosphate Dehydrogenase (G6PD), Quantitative, Blood and Hemoglobin – 121003

Evaluate glucose 6-phosphate dehydrogenase (G6PD) deficiency. G6PD deficiency, an X-linked disorder, is the most common enzymatic disorder of red blood cells in humans, affecting more than 400 million people worldwide. The clinical expression of G6PD variants encompasses a spectrum of hemolytic syndromes. Affected patients are most often asymptomatic, but many patients have episodic anemia, while a few have chronic hemolysis.

With the most prevalent G6PD variants (G6PD A- and G6PD Mediterranean), hemolysis is induced in children and adults by the sudden destruction of older, more deficient erythrocytes after exposure to drugs having a high redox potential (including the antimalarial drug primaquine and certain sulfa drugs) or to fava beans, selected infections, or metabolic abnormalities. In the neonate with G6PD deficiency, however, decreased bilirubin elimination may play an important role in the development of jaundice.

G6PD deficiency should be suspected in any subject with an episode of nonimmune hemolytic anemia, especially if occurring after drug ingestion, infection, or an episode of diabetic ketoacidosis.