[The Japanese family of congenital high red cell membrane phosphatidylcholine hemolytic anemia].

A Japanese family of congenital high red cell membrane phosphatidylcholine hemolytic anemia (HPCHA) is reported. The propositus was a 48-year-old woman, who had been followed up as hemolytic anemia of unknown origin and undergone splenectomy. She showed no improvement after splenectomy. She also had primary biliary cirrhosis, of which a diagnosis was made based on laboratory data and liver biopsy. Red cell morphology demonstrated stomatocytosis with erythroid hyperplasia in the bone marrow. Abnormal hemoglobins and the red cell enzyme activities were not demonstrated. A marked abnormality was noted in red cell membrane lipids, specifically the elevation of phosphatidylcholine (PC) and free cholesterol (FC), despite of normal plasma lipids and lecithin cholesterol acyltransferase activity. Sodium transport, both influx and efflux, was increased. Therefore, the diagnosis of HPCHA was confirmed. The three additional cases were found in her pedigree. The data on the red cells of her mother and elder sister were similar to hers with respect to the red cell lipids and sodium transport. The propositus and her mother showed no improvement of anemia or icterus after splenectomy. There are only three reports of the family with HPCHA in the world.