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.Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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