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A rare recessive disorder manifested by severe hemolysis, marked poikilocytosis, and a characteristic sensitivity of the red cells to heat-induced fragmentation in vitro; apparently due to a defect in spectrin self-association.
Synonym(s): hereditary pyropoikilocytosis
hereditary pyropoikilocytosisAn autosomal recessive disorder (OMIM:26614) characterised by haemolytic anaemia, microspherocytosis, poikilocytosis and an increased thermal sensitivity of red cells.
Caused by defects of SPTA1, which encodes an alpha erythrocyte spectrin and major scaffold protein that links the plasma membrane to the actin cytoskeleton.