Studies in Congenital Non-Spherocytic Haemolytic Anaemias with Specific Enzyme Defects

Abstract
Three types of enzyme defect in the red cells of northern Caucasian families are described associated with congenital nonspherocytic hemolytic anemia. The enzymes involved are pyruvic kinase, glucose-6-phosphate dehydrogenase and 2,3-diphospho-glyceromutase. Measurements of phosphate esters in the red cells were made together with glucose utilisation and lactate production. Enzyme assays were also made in leucocytes.