Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency)

  • NADPH is necessary to keep glutathione reduced, which in turn detoxifies free radicals and peroxides. NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents (eg, fava beans, sulfonamides, nitrofurantoin, nalidixic acid, chloramphenicol, primaquine/chloroquine, antituberculosis drugs, vitamin K analogs, ASA, benzene, naphthalene). Infection (most common cause) can also precipitate hemolysis; inflammatory response produces free radicals that diffuse into RBCs, causing oxidative damage.
  • X-linked recessive disorder; most common human enzyme deficiency; more prevalent among African Americans. malarial resistance.
  • Heinz bodies—denatured globin chains precipitate within RBCs due to oxidative stress.
  • Bite cells—result from the phagocytic removal of Heinz bodies by splenic macrophages. Think, “Bite into some Heinz ketchup.”
  • Infants may have prolonged neonatal jaundice (beyond 2 weeks) due to increased erythrocyte breakdown and immaturity of the newborn liver.

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