title: Haemolytic anaemia associated with glucosephosphate isomerase (GPI) deficiency in a Black South African child.
abstract: 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.
mesh_terms: D000743:Anemia, Hemolytic / Q000201:enzymology*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005956:Glucose-6-Phosphate Isomerase / Q000235:genetics; D006801:Humans; D010375:Pedigree; D013019:South Africa
chemical_list: D005956:Glucose-6-Phosphate Isomerase