elliptocytosis type 2
elliptocytosis type 2A Rhesus-unlinked form (OMIM:130600) of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant haematologic disorder characterised by variable haemolytic anaemia and elliptical or oval red cells.
Caused by defects of SPTA1, which encodes an alpha erythrocyte spectrin and major scaffold protein linking the plasma membrane to the actin cytoskeleton.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.