Glucose-6-phosphate dehyrogenase deficiency G6PD

Glucose-6-phosphate dehyrogenase deficiencyBite cellsHeinz bodies
  • Facts:
    X linked recessive disorder, MC in AA men

    G6PD enzyme involved in creating NADPH (cofactor required to create glutathione and prevent oxidation of hemoglobin)

    Without G6PD, hemoglobin becomes oxidized and denatures into Heinz bodies

    Variants are G6PD A- (moderate enzyme deficiency) and G6PD Mediterranean (severe enzyme deficiency
  • History / PE:
    Abdominal pain
  • Diagnosis:
    Heinz bodies (denatured hemoglobin) and bite cells
    Positive Prussian blue staining (detects hemosiderin)
    G6PD levels are usually paradoxically normal during hemolytic episode
  • Notes:
    Patients are less susceptible to malaria
  • Associated With:
    Episodic hemolysis from fava beans, oxidant drugs (esp. primaquine, sulfa drugs, amiodarone , antimalarials, nitrofurantoin), and infections
  • Differential Diagnosis:
    Sickle cell disease (painful crisis)
    Pyruvate kinase deficiency (hemolysis not precipitated by drugs/infections)

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July 28th 2010