spherocytosis, hereditary, type 4

spherocytosis, hereditary, type 4

An autosomal haematologic disorder (OMIM:612653) characterised by numerous abnormally shaped, generally spheroid erythrocytes accompanied by chronic haemolytic anaemia.

Molecular pathology
Caused by defects of SLC4A1, which encodes a protein with an N-terminal 40kDa domain that is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin.