Type II Congenital Dyserythropoietic Anemia

Three children from a family with 10 members had congenital dyserythropoietic anemia, type II. These cases differ from those previously described in that Gaucher-like histiocytes were present in bone marrow aspirates from all affected children. The light and electron microscopic appearance of these cells resembled those described in chronic myelogenous leukemia and thalassemia. Using the endogenous carbon monoxide production as an index of total heme turnover and the erythrocyte 51Cr survival as an index of peripheral destruction, significant erythrocyte hemolysis was shown in the marrow. A recessive mode of inheritance is suggested, with the homozygous person having clinical disease and the heterozygous person having only serological abnormalities.