Congenital Dyserythropoietic Anemia Type II: Excessive Endoplasmic Reticulum in Erythroid Cells and Mitochondrial Inclusions of Hepatic Cells

Congenital dyserythropoietic anemia (CDA) as described in 1966 was characterized by (i) erythroblastic multinuclearity and (ii) lysis of the patient's red cells in acidified compatible normal human serum. This condition has since been labeled CDA Type II to distinguish it from a similar entity, CDA Type I, with erythroblastic multinuclearity but without red cell lysis in acidified human serum. According to this classification, our initial study of bone marrow ultrastructure in CDA concerned a girl with Type II. Her bone marrow contained erythroid cells with excessive cytoplasmic membranes and multiple nuclei. The present report illustrates this observation. The patient was a 12 year old white girl with congenital anemia and benign recurrent jaundice. Hemolysis was not present since Cr51 red cell survival time was normal. Bone marrow aspirates (Figure 1, 2 and 4) circulating red cells (Figure 3) and hepatic biopsy specimens were examined. The markers indicate 0.5 microns and N designates nucleus. The myeloid series was normal. Figure 1 shows a representative polychromatophilic normoblast.