Abstract
A new variant of red cell GPI deficiency (Type Nordhorn) with congenital nonspherocytic hemolytic anemia is described. The propositus suffers since birth from a severe anemia. GPI activity is decreased to 22% of the normal. The parents exhibit activities between 36 and 47 %. The thermal stability of the mutant enzyme is decreased in the propositus and in all affected maternal relatives. The propositus is not homozygous, but double-heterozygous for two abnormal alleles. The heterozygous mother contributes an allele which produces a thermolabile enzyme of decreased activity and abnormal electrophoretic mobility, whereas the father contributes an inactive gene product. The enzyme defect becomes also manifest in the leucocytes of the propositus. The thermolability is also evident in the leucolysates of the mother. Compared with erythrocyte populations of similar mean cell age the rate of red cell glycolysis is reduced in the propositus. A premature inactivation of the enzyme during maturation of the erythrocytes is suggested.
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