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.