Diagnostics of Protein Defects in Hereditary Spherocytosis

Hereditary spherocytosis (HS) is caused by mutations in cytoskeletal proteins of erythrocytes. Lowered expression or altered function of the cytoskeletal proteins lead to the loss of the normal shape of the erythrocyte and to lower resistance to osmotic pressure. Hemolysis and premature retention of erythrocytes in the spleen result in anemia.

In the framework of the Centre for Rare Hematopoietic Disorders, we have been introducing methods for specific diagnostics of hereditary spherocytosis: eosin-maleimide binding test (EMA, a fast and relatively specific screening method for HS) and the detailed analysis of erythrocyte skeletal proteins using gel electrophoresis.