elliptocytosis type 2

elliptocytosis type 2

A 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. 

Molecular pathology
Caused by defects of SPTA1, which encodes an alpha erythrocyte spectrin and major scaffold protein linking the plasma membrane to the actin cytoskeleton.