Autosomal recessive mutations in one of the following genes:
SPTA1 (encoding alpha-spectrin)
SPTB (encoding beta-spectrin)
EPB41 (encoding protein 4.1)
British Committee Standards in Haematology (BCSH) expert guideline on diagnosis of hereditary spherocytosis can be found in Br J Haematol 2012 Jan;156(1):37