spherocytosis, hereditary, type 3

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spherocytosis, hereditary, type 3

An autosomal recessive haematologic disorder (OMIM:270970) characterised by numerous abnormally shaped, generally spheroid erythrocytes accompanied by severe haemolytic anaemia.

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.