spherocytosis, hereditary, type 2
spherocytosis, hereditary, type 2
An autosomal dominant haematologic disorder (OMIM:182870) characterised by numerous abnormally shaped, generally spheroid erythrocytes accompanied by severe haemolytic anaemia.Molecular pathology
Caused by defects of SPTB, which encodes beta spectrin, a major constituent of the cytoskeletal network underlying the red cell plasma membrane.