spherocytosis, hereditary, type 3(redirected from SPH3)
spherocytosis, hereditary, type 3An autosomal recessive haematologic disorder (OMIM:270970) characterised by numerous abnormally shaped, generally spheroid erythrocytes accompanied by severe haemolytic anaemia.
Caused by defects of SPTA1, which encodes an alpha erythrocyte spectrin and major scaffold protein linking the plasma membrane to the actin cytoskeleton.
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