elliptocytosis type 4

elliptocytosis type 4

A Rhesus-unlinked form (OMIM:109270) of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant haematologic disorder characterised by variable haemolytic anaemia and elliptical or oval red cells. 

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