Hereditary spherocytosis HS

Hereditary spherocytosisHereditary spherocytosis
  • Facts:
    Autosomal dominant, EXTRAvascular hemolytic anemia
    MC hereditary hemolytic anemia in white population
    RBC membrane spectrin gene defect
    RBCs get trapped in red pulp of spleen, undergo hemolysis
  • History / PE:
    Positive family history
    Pallor, jaundice
  • Diagnosis:
    Peripheral smear shows spherocytes with central pallor
    Osmotic fragility test
    Positive COOBS' test
    Pigmented gallstones (calcium bilirubinate)
    Elevated reticulocyte count, indirect bilirubin, serum LDH
  • Treatment:
    Folic acid supplementation
  • Complications:
    Acute cholecystitis (from bilirubin gallstones)
  • Notes:
    Post splenectomy, patients require anti-pneumococcal, Haemophilius, and menigococcal vaccines

    Additionally, daily oral penicillin prophylaxis for 3-5 years afterwards
  • Differential Diagnosis:
    1) Autoimmune hemolytic anemia (negative family history)
    2) Paroxysmal nocturnal hemoglobinuria (intravascualr hemolysis)

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August 5th 2010