[Morphological studies of erythrocytes in congenital dyserythropoietic anemia type II]

The etiology of congenital dyserythropoietic anemia (CDA) type II is unknown. The diagnosis is based on morphologic and immunologic criteria. We present three girls with well documented CDA II who were followed for 5-8 years. The anemia was mild, progressive body iron overload was found. In none of the girls splenectomy was indicated. Morphologic features of ++erythrocytes and bone marrow erythroid cells were studied by means of light and electron microscopy. Up to 45% of erythrocytes showed invaginations with endocytic cisterns and shape abnormalities (echinocytes, anisocytosis, microcytosis). Typical abnormalities of the external surface of RBC membrane: invaginations, depressions, pits and plaques were shown in the scanning electron microscopic studies. Our studies indicate that the morphological features of erythrocyte in our patients may be consequence of the biochemical changes in the membranes and may contribute to the shortened life span of erythrocytes in patients with CDA II.