elliptocytosis type 3
elliptocytosis type 3
A Rhesus-unlinked form (OMIM:182870) 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 SPTB, which encodes beta spectrin, a major constituent of the cytoskeletal network underlying the red cell plasma membrane.