Glucose-6-phosphate dehyrogenase deficiency G6PD

• 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:
  Fever
  Jaundice
  Abdominal pain
  Hematuria
• 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)