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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Hereditary spherocytosis may present with jaundice in childhood or may be discovered in later life, often incidentally. Most patients develop a partially compensated haemolytic state characterised by:

  • anaemia - variable, dependent upon the degree of bone marrow compensation
  • splenomegaly
  • mild or intermittent jaundice, caused by haemolysis. Occassionally it may present as severe jaundice in the neonatal period.
  • pigment gallstones, secondary to jaundice
  • attacks of cholecystitis
  • occasionally, leg ulceration

Additionally, periods of severe anaemia may arise - aplastic crises, precipitated by infection, often by human parvovirus, or folate deficiency, especially in pregnancy.

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