A Sporadic Case of Congenital High Red Cell Membrane Phosphatidyl Choline Hemolytic Anemia Refractory to Splenectomy

Abstract

A sporadic case of congenital high red cell membrane phosphatidyl choline hemolytic anemia (HPCHA) was described. The 36-year-old woman followed up as hemolytic anemia of unknown origin underwent splenectomy and cholecystectomy. The patient showed no improvement after splenectomy. Thereafter, red cell membrane metabolism was investigated. A marked abnormality was noted in red cell membrane lipids, specifically the elevation of phosphatidyl choline (PC) content despite of normal plasma lipids and LCAT activity. Sodium transport, both influx and efflux, was increased, and membrane ATP-ase activity was enhanced. Therefore, the diagnosis of HPCHA was confirmed. Splenectomy was effective only in one case of HPCHA among 4 reported cases. In our case, red cell ghosts were noted on the peripheral blood smears associated with hemosiderinuria, which indicates the presence of intravascular hemolysis.