Hereditary RBC membrane disorders

on 4.3.09 with 0 comments

  • Hereditary spherocytosis

    • Most frequent; due to decreased RBC deformability due to abnormalities of the cytoskeletal protein spectrin (and/or ankyrin)

    • AD inheritance in 75% of cases; AR inheritance associated with more severe disease (may come from a spontaneous mutation, so don’t rely on family history)

    • C/S: jaundice, splenomegaly, pigment gallstone formation, and mild to moderate chronic hemolysis which may be worsened by infection, resulting in a hemolytic or aplastic crisis

    • May be confirmed with an osmotic fragility test (lysis in hypotonic saline), but this is not specific…the diagnosis is one of exclusion

    • Splenectomy may be beneficial if hemolysis is severe

  • Hereditary elliptocytosis – similar to spherocytosis and is also due to an abnormal RBC structural protein

Category: Medical Subject Notes , Pathology Notes



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