Hereditary Spherocytosis

  • most common inherited haemolytic anaemia amongst whites

  • autosomal dominant - 25% are new mutation

Clinical presentation

  • severe neonatal haemolytic anaemia

  • symptomatic haemolytic anaemia

  • incidental finding

Clinical features

  • anaemia

  • jaundice

  • splenomegaly

  • ankle ulcers

Laboratory features

  • blood film

    • microspherocytes, polychromasia

  • variable haemoglobin level

  • osmotic fragility

  • direct antiglobulin test negative

Treatment

  • splenectomy restores lifespan (>6 years old if possible)

  • folic acid

  • may get pigment gallstones

 

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