Abstract
A 7 year-old Japanese male of congenital high red cell membrane phosphatidyl choline hemolytic anemia with stomatocytosis and with increased sodium transport is reported. At his age of 3, moderate amneia (RBC 158×104/μl with marked reticulocytosis (22.9%) and mild jaundice (indirect bilirubin 1.2mg/dl) were first noted with normal hepatic function tests. Red cell morphology demonstrated marked stomatocyosis with erythroid hyperplasia in the bone marrow. Red cell life span (51Cr T1/2) was 15.5 days. Osmotic fragility of the patient's red cells was decreased with the Dacie I pattern on autohemolysis tests. Plasma lipids were: total cholesterol 124mg/dl, triglycerides 143mg/dl, phospholipids 158mg/dl, β-lipoproteins 314mg/dl, HDL-cholesterol 26mg/dl. Red cell membrane lipids (μg/1010 RBC) were: total phospholipids 3,102 (N: 2,604±241), phosphatidyl choline 1,042 (733±64), Phosphatidyl ethanolamine 862 (806±86) sphingomyelin 676 (663±73), and phosphatidyl serine 481 (366±38), associated with increased free cholesterol (1,415; N: 1,202±103). Sodium influx (3.72mmoles/l RBC/hour) and sodium efflux (rate constant hr-1; 0.40) were markedly increased compared to normal control (1.42±0.16 and 0.24±0.05) respectively. Red cell Na and K concentrations were maintained normally. No other case was detected in the patient's pedigree. No abnormality was detected on hemoglobin metabolism or on glycolytic activities.
