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Definition of G6PD deficiency

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

G6PD deficiency: Deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD), the most common enzyme defect of medical importance. About 10 percent of American black males have G6PD deficiency, as do a lesser percent of black females. G6PD deficiency is also increased in frequency in people of Mediterranean origin (including Italians, Greeks, Arabs, and Jews). The gene encoding G6PD is on the X chromosome. Males with this enzyme deficiency may develop anemia due to the breakup of their red blood cells when they are exposed to oxidant drugs, naphthalene moth balls, or fava beans. The offending drugs include the antimalarial primaquine, salicylates, sulfonamide antibiotics, nitrofurans, phenacetin, and some vitamin K derivatives. Fever, viral and bacterial infections, and diabetic acidosis can also precipitate a hemolytic crisis (when the red blood cells break up), resulting in anemia and jaundice. The concentration of G6PD deficiency in certain populations is believed to reflect a protective effect it afforded (much like sickle cell trait) against malaria.

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