A case of hemolytic anemia with increased red cell membrane lipids (phosphatidyl choline and free cholesterol) is reported. A 26-year-old male was first seen with mild anemia, slight jaundice and hepatosplenomegaly. Hemolytic anemia was evident from indirect bilirubinemia, reticulocytosis and the presence of gallstones. Red cell morphology was unremarkable except for stomatocytic changes and occasional target cells. Osmotic fragility of red cells was decreased. Apparent red cell life span (51Cr T 1/2) was 7 days. Of the glycolytic enzymes, the activity of adenosine deaminase was decreased to 50%, but other enzymes were essentially normal. Abnormal hemoglobins were not demonstrated.
Plasma lipid analysis showed decrease of total cholesterol, HDL-cholesterol and Apo AI. Additionally, the activity of lecithin: cholesterol acyltransferase was slightly low. Liver biopsy noted normal histology and a normal amount of copper. Concomitant to the abnormalities of membrane lipids, a marked increase of sodium influx was obserbed with increased Na+-K+-ATPase activities. Red cell sodium was elevated with a diminished potassium content during in vitro incubation.
