Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden.

Abstract excerpt

In two siblings, children of non-consanguineous parents, glucosephosphate isomerase (GPI) deficiency was found to be the cause of recurrent haemolytic crises. Characterization of the variant enzyme found in both individuals revealed low specific activity in erythrocytes and leucocytes, increased electrophoretic mobility and pronounced thermolability. Evaluation of the electrophoretic data allows the conclusions...

Topics

• Anemia, Hemolytic, Congenital
• Anemia, Hemolytic, Congenital Nonspherocytic
• Enzyme Stability
• Erythrocyte Membrane
• Female
• Genetic Variation
• Glucose-6-Phosphate Isomerase
• Granulocytes
• Humans
• Infant, Newborn