elliptocytosis 1

elliptocytosis 12016-11-25T19:38:29+00:00

elliptocytosis 1

HAEMATOLOGY

A Rhesus-linked form (OMIM:611804) of hereditary elliptocytosis*, which is characterised by variable haemolytic anaemia and elliptical or oval red cell shape.

*A genetically heterogeneous, autosomal dominant haematologic disorder

Molecular pathology Defects of EPB41, which encodes protein 4.1 and which, with spectrin and actin, constitutes the red cell membrane cytoskeletal network responsible for maintaining red cell shape and deformability,  cause elliptocytosis 1. 

Synonyms 4.1- trait, 4.1-minus trait, elliptocytosis—Rhesus-linked type, protein 4.1 of erythrocyte membrane—defect of 

References http://www.uniprot.org/uniprot/P11171

http://www.omim.org/entry/611804

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