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