Ultrastructural features in two cases of congenital dyserythropoietic anemia type II.

Two patients with congenital dyserythropoietic anemia (CDA) type II were investigated in bone marrow as well as in blood cells. The majority of red cell precursors showed typical morphological abnormalities: high incidence of binucleated erythroblasts, normoblastic hyperplasia, nucleo-cytoplasmic dissociations, karyorrhexis of some nuclei, presence of synartesis phenomenon, invagination of cytoplasmic portions into the nuclear area and presence of marginal cisterna. The modified erythroblasts were present in the peripheral blood, too. The presence of Gaucher-like cells suggests an abnormal catabolism of the red cell precursors membranes.