New Variant of Congenital Dyserythropoietic Anemia with Trilineage Myelodysplasia

Abstract

We report the case of a male infant with a variant of congenital dyserythropoietic anemia (CDA), who developed severe hyperbilirabinemia on the day of birth, subsequent severe anemia, and hyperferritinemia. Bone marrow and laboratory examinations revealed features of CDA including trilineage myelodysplasia and erythroblasts with a binucleated nuclear morphology and ineffective erythropoiesis. The CDA in this patient was assumed to be a new variant type because of: the lack of internuclear chromatin bridges in the erythroblasts with abnormal nuclear morphology; a negative acid serum test; the presence of erythrocyte antigen I, and the effect of splenectomy. Trilineage myelodysplasia in CDA is not known. An abnormality in the stem cells was suggested to be the cause of CDA in this case.

Dyserythropoiesis and Congenital Dyserythropoietic Anaemias

“…It appears that the responders may be those with a substantial peripheral haemolytic component and evidence of destruction of red cells in the spleen as judged by ferro-erythrokinetic and surface counting studies (Barosi et al, 1979). There are also reports of severely affected patients with CDA type I (Tamary et al, 1996a) and other CDA types (Samson et al, 1977;Choudhry et al, 1981;Hirose et al, 1995) whose condition improved after splenectomy, although some fail to respond (Bird et al, 1985). Improvement of the Hb after splenectomy must imply either that there had been significant red cell destruction in the spleen or that the spleen had produced a humoral factor mediating at least some of the ineffectiveness of erythropoiesis.…”