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

Bone Marrow Transplant. 2002 Apr;29(8):681-2. doi: 10.1038/sj.bmt.1703526.


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.

MeSH terms

  • Anemia, Dyserythropoietic, Congenital / classification
  • Anemia, Dyserythropoietic, Congenital / therapy*
  • Blood Transfusion
  • Child
  • Child, Preschool
  • Female
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Infant
  • Male
  • Transplantation Conditioning
  • Transplantation, Homologous