Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation.
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.
Department of Pediatric Hematology Oncology, King Faisal Specialist Hospital and Research Center (KFSH&RC), MBC 53, PO Box 3354, Riyadh 11211, Saudi Arabia.
M
M
Ayas
A
A
al-Jefri
A
A
Baothman
M
M
al-Mahr
M M
MM
Mustafa
S
S
Khalil
M
M
Karaoui
H
H
Solh
D000742:Anemia, Dyserythropoietic, Congenital / Q000145:classification / Q000628:therapy*; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous