Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation

Abstract

Summary:Until recently, therapy for patients with severe congenital dyserythropoietic anemia (CDA) has been limited to blood transfusions and chelation therapy. Three children with transfusion-dependent CDA type I underwent allogeneic stem cell transplantation (SCT) from matched sibling donors. Conditioning was with cyclophosphamide 50 mg/kg/day for 4 days, busulphan 4 mg/kg/day for 4 days, and antithymocyte globulin (ATG) 30 mg/kg for four doses pre-SCT. All patients engrafted and are alive, and transfusion independent. To our knowledge, this is the first report of successful SCT in the management of CDA type I.

Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation

“…41 One successful allogeneic sibling bone marrow transplantation was reported. 42 Like those with other rare anemias, patients with CDA I should be treated by hematologists in cooperation with specialized centers in order to recognize disease-specific complications and to avoid superfluous diagnostic procedures as well as potentially harmful therapies. Monitoring of iron status to prevent clinically relevant secondary hemochromatosis is essential.…”

Advances in the understanding of the congenital dyserythropoietic anaemias

“…Successful treatment using human leucocyte antigen (HLA)‐matched allogeneic haemopoietic stem cell transplantation has been reported in a few severely affected cases of CDA. These include a case of transfusion‐dependent CDA type I (Ayas et al , 2002), a patient with CDA type II associated with β ‐thalassaemia trait (Iolascon et al , 2001b), a case of variant CDA type II with a negative Ham test (Remacha et al , 2002) and a patient with an incompletely documented form of CDA (Ariffin et al , 1996).…”

A case of congenital dyserythropoietic anemia type IV

“…Therapies for CDA patients are red cell transfusions, iron chelation to prevent organ damage, splenectomy to abrogate transfusion requirements, or special therapies such as interferon‐α in CDA I patients or stem cells transplantation in severe cases of CDA .…”