title: Congenital sideroblastic anaemia successfully treated using allogeneic stem cell transplantation.
abstract: Therapy for patients with congenital sideroblastic anaemia has been limited to blood transfusions and chelation. Three children with congenital sideroblastic anaemia (SA) who were blood transfusion dependent underwent stem cell transplantation (SCT) from matched sibling donors. Conditioning consisted of cyclophosphamide 50 mg/kg/d for 4 d, busulphan 4 mg/kg/d for 4 d and anti-thymocyte globulin (ATG) 30 mg/kg for four doses pretransplant. Graft-versus-host disease (GVHD) prophylaxis was with cyclosporin A and methotrexate. All patients engrafted, and are alive and transfusion independent. SCT can be curative for patients with SA.
authors.affiliation: Department of Oncology, King Faisal Specialist Hospital and Research Centre (KFSH & RC), Riyadh, Saudi Arabia. mouhab@kfshrc.edu.sa
authors.forename: M
authors.initials: M
authors.lastname: Ayas
authors.forename: A
authors.initials: A
authors.lastname: Al-Jefri
authors.forename: M M
authors.initials: MM
authors.lastname: Mustafa
authors.forename: M
authors.initials: M
authors.lastname: Al-Mahr
authors.forename: L
authors.initials: L
authors.lastname: Shalaby
authors.forename: H
authors.initials: H
authors.lastname: Solh
mesh_terms: D000756:Anemia, Sideroblastic / Q000151:congenital* / Q000601:surgery*; D000961:Antilymphocyte Serum / Q000008:administration & dosage; D002066:Busulfan / Q000008:administration & dosage; D002648:Child; D002675:Child, Preschool; D003520:Cyclophosphamide / Q000008:administration & dosage; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007166:Immunosuppressive Agents / Q000008:administration & dosage; D007223:Infant; D008297:Male; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous
chemical_list: D000961:Antilymphocyte Serum; D007166:Immunosuppressive Agents; D003520:Cyclophosphamide; D002066:Busulfan