Hereditary Spherocytosis

most common hereditary haemolytic anaemia in people of northern European descent
autosomal dominant defect of red blood cell cytoskeleton
the normal biconcave disc shape is replaced by a sphere-shaped red blood cell
red blood cell survival reduced as destroyed by the spleen

Presentation
failure to thrive
neonatal jaundice

complications
gallstones
splenomegaly
aplastic crisis precipitated by parvovirus infection
degree of haemolysis variable

Investigation
normocytic anaemia
spherocytes
MCHC elevated
osmotic fragility test

Management
folate replacement
splenectomy

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