What is Hereditary spherocytosis?

most common hereditary haemolytic anaemia in people of northern European descent

What is the inheritance pattern of Hereditary spherocytosis?

autosomal dominant

What are the main clinical features of Hereditary spherocytosis?

• failure to thrive
• jaundice, gallstones
• splenomegaly

How is Hereditary spherocytosis diagnosed?

• typical presentation can be diagnosed clinically
• if the diagnosis is equivocal the BJH recommend the EMA binding test and the cryohaemolysis test
• for atypical presentations electrophoresis analysis of erythrocyte membranes is the method of choice

What is the pathophysiology of Hereditary spherocytosis?

• the normal biconcave disc shape is replaced by a sphere-shaped red blood cell
• red blood cell survival reduced as destroyed by the spleen

In Hereditary spherocytosis what precipitates aplastic crisis?

parvovirus infection

What is the treatment for acute haemolytic crisis in Hereditary spherocytosis?

• treatment is generally supportive
• transfusion if necessary

What is the long term management of Hereditary spherocytosis?

• folate replacement
• splenectomy