title: Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia.
abstract: We report on a case of pyridoxine refractory hereditary sideroblastic anaemia (HSA) in a 19-year-old man who underwent peripheral blood stem cell transplantation (PBSCT) from his HLA-identical brother. By using short tandem repeat polymorphism, 100% donor cells were observed in peripheral blood on day +21; bone marrow showed mixed chimaerism from day +21 to day +221, when 100% cells of donor origin were observed. The patient developed extensive chronic graft-versus-host disease with favourable response to treatment. When the haemoglobin range was normal, a programme of phlebotomies reduced serum ferritin levels. Three years after transplantation, the patient has an ECOG rating of 0, with completely normal haemoglobin values (15 g/dl). To our knowledge, this is the first PBSCT reported in a case of hereditary sideroblastic anaemia.
authors.affiliation: Servicio de Hematología, Hospital Clínico Universitario, Salamanca, Spain.
authors.forename: M I
authors.initials: MI
authors.lastname: González
authors.forename: D
authors.initials: D
authors.lastname: Caballero
authors.forename: L
authors.initials: L
authors.lastname: Vázquez
authors.forename: C
authors.initials: C
authors.lastname: Cañizo
authors.forename: R
authors.initials: R
authors.lastname: Hernández
authors.forename: C
authors.initials: C
authors.lastname: López
authors.forename: A
authors.initials: A
authors.lastname: Izarra
authors.forename: J L
authors.initials: JL
authors.lastname: Arroyo
authors.forename: M
authors.initials: M
authors.lastname: González
authors.forename: R
authors.initials: R
authors.lastname: García
authors.forename: J F
authors.initials: JF
authors.lastname: San Miguel
mesh_terms: D000328:Adult; D000756:Anemia, Sideroblastic / Q000235:genetics* / Q000276:immunology / Q000628:therapy*; D001803:Blood Transfusion; D016572:Cyclosporine / Q000627:therapeutic use; D005500:Follow-Up Studies; D006086:Graft vs Host Disease / Q000276:immunology; D006680:HLA Antigens / Q000276:immunology; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D013256:Steroids / Q000627:therapeutic use; D014184:Transplantation, Homologous
chemical_list: D006680:HLA Antigens; D007166:Immunosuppressive Agents; D013256:Steroids; D016572:Cyclosporine