spherocytosis, hereditary, type 1


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spherocytosis, hereditary, type 1

An autosomal dominant or recessive haematologic disorder (OMIM:182900) characterised by numerous abnormally shaped, generally spheroid erythrocytes accompanied by chronic haemolytic anaemia.

Molecular pathology
Caused by defects of ANK1, which encodes a protein that binds to the erythrocyte membrane protein band 4.2.