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.

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