Erythrocyte lipids and vitamin E in Type II congenital dyserythropoietic anemia

An 8-year-old girl with Type II congenital dyserythropoietic anemia, characterized by morphologic abnormalities of erythroid precursors, immunologic alterations, hyperbilirubinemia, and chronic anemia, was found to be vitamin E deficient. Nutritional history and vitamin E absorption studies indicated that neither dietary lack nor intenstinal malabsorption was the cause of the deficiency. Striking changes in the patient's hematologic status following administration of vitamin E included rise in hemoglobin, decrease in bilirubin and reticulocyte count, and a marked increase in red blood cell survival. Erythrocyte phospholipids, altered while the patient was vitamin E deficient, returned to normal levesl during therapy. However, hematologic improvement was not complete, immunolotic abnormalities persisted, and morphologic aberrations in erythrocyte precursors actually increased during vitamin E therapy. It is therefore concluded that vitamin E deficiency played a secondary role in the production of the child's hematologic disorder and may have been a result of the increased utilization of the vitamin in stabilization of defective cellular membranes.