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.
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