[Hereditary high red cell membrane phosphatidylcholine hemolytic anemia (HPCHA)]

Abstract

HPCA is a rare disease among hemolytic anemias. A dominantly transmitted chronic anemia characterized by an increase of erythrocyte membrane phosphatidylcholine (PC) and cholesterol with decrease of phosphatidylethanolamine (PE). On peripheral blood smears stomatocytes and target cells are evident. The MCV may be increased, but the life span of red cells is decreased. The osmotic fragility is normal or increased, but splenectomy is not effective. These two points are different from other hereditary hemolytic anemias. As in other hemolytic anemias, gallstone and biliary tract disease more frequently occur than in the general population. An imbalance in membrane phospholipid content is attributed to a defect in the enzyme required for the transfer of membrane fatty acid from PC to PE. As a result, Cation flux glycolysis and membrane cation pump activity are increased. These abnormality is probably for hemolysis.