Nov 1, 1977

Haemolytic anaemia associated with glucosephosphate isomerase (GPI) deficiency in a Black South African child

British Journal of Haematology
E CayanisL G MacDougall


Haemolytic anaemia in a Black South African child was found to be associated with reduced glucosephosphate isomerase activity in the red cells. Apart from the haemolytic anaemia, there was no other clinical evidence of dysfunction. Family studies pointed to an autosomal recessive mode of inheritance, with the symptomatic homozygous propositus having a marked enzyme deficiency and the asymptomatic heterozygotes showing intermediate levels of activity. Biochemical characterization showed that, apart from being thermolabile, the electrophoretic mobility and the kinetic properites of the variant enzyme were similar to those of the normal wild type.

Mentioned in this Paper

Glycosylphosphatidylinositol Deficiency
Enzyme Deficiency
Family Investigation, NOS
Anemia, Hemolytic, Congenital Nonspherocytic
Glucosephosphate Isomerase
Microangiopathic Hemolytic Anemia
Autocrine Motility Factor

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