Abnormal lipid composition of the red cell membrane in congenital dyserythropoietic anemia type II (HEMPAS).

The lipids derived from the erythrocytes of two siblings with clinical congenital dyserythropietic anemia Type II (CDA-II) and one sibling without clinical evidence of CDA-II underwent a detailed analysis. The total phospholipids, total cholesterol, and cholesterol: phosphate ratio were normal in all siblings. In the two clinically affected siblings there was a significant increase in the phosphatidyl choline with a concomitant decrease in the other phospholipids. The fatty acids of phosphatidyl choline from the CDA-II erythrocytes were normal. The total gylcosphingolipids were increased in all siblings. The glycosphingolipids, di- , tri-, and tetrahexosyl ceramides were increased 1.5- to 10-fold over controls in the clinically affected siblings. The increases were present but less striking in the clinically unaffected sibling. Gluococerebroside was not significantly increased in any of the siblings. The possible causes and significance of the lipid changes are discussed.