title: Nonmyeloablative allogeneic hematopoietic stem cell transplantation for congenital sideroblastic anemia.
abstract: Congenital sideroblastic anemia (CSA) is a dyserythropoietic disorder that leads to transfusion dependency and subsequent iron overload. Nonmyeloablative allogeneic hematopoietic stem cell transplantation (NST) was performed for a patient with CSA, who had contraindications to conventional allografting. Conditioning was fludarabine, low-dose total body irradiation and antithymocyte globulin, followed by peripheral blood stem cell transplant. Cyclosporine and mycophenolate mofetil were used for graft-versus-host disease prophylaxis. Complete donor chimerism was observed day +131. Early after transplant, the patient became transfusion independent, allowing a regular phlebotomy program. On day +190, refractory lactic acidosis followed by fatal cardiovascular collapse developed, without evidence of infection. Data from this case demonstrates that NST may correct the erythropoietic defect of CSA.
authors.affiliation: Department of Medicine, University of Colorado Health Sciences Center, Denver, CO, USA.
authors.forename: B C
authors.initials: BC
authors.lastname: Medeiros
authors.forename: J F
authors.initials: JF
authors.lastname: Kolhouse
authors.forename: P J
authors.initials: PJ
authors.lastname: Cagnoni
authors.forename: J
authors.initials: J
authors.lastname: Ryder
authors.forename: Y
authors.initials: Y
authors.lastname: Nieto
authors.forename: R
authors.initials: R
authors.lastname: Rabinovitch
authors.forename: E J
authors.initials: EJ
authors.lastname: Shpall
authors.forename: S I
authors.initials: SI
authors.lastname: Bearman
authors.forename: R B
authors.initials: RB
authors.lastname: Jones
authors.forename: P A
authors.initials: PA
authors.lastname: McSweeney
mesh_terms: D000328:Adult; D000756:Anemia, Sideroblastic / Q000151:congenital* / Q000628:therapy*; D000961:Antilymphocyte Serum / Q000627:therapeutic use; D017809:Fatal Outcome; D006086:Graft vs Host Disease / Q000517:prevention & control; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D019172:Transplantation Conditioning / Q000379:methods; D014184:Transplantation, Homologous; D014740:Vidarabine / Q000031:analogs & derivatives* / Q000627:therapeutic use; D014916:Whole-Body Irradiation
chemical_list: D000961:Antilymphocyte Serum; D007166:Immunosuppressive Agents; D014740:Vidarabine; C024352:fludarabine