title: Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry.
abstract: Allogeneic haematopoietic stem cell transplantation (HSCT) is the only curative option for patients with Diamond Blackfan anaemia (DBA). We report the transplantation outcome of 30 Italian DBA patients referred to the Italian Association of Paediatric Haematology and Oncology Registry between 1990 and 2012. This is one of the largest national registry cohorts of transplanted DBA patients. Most patients (83%) were allografted after 2000. A matched sibling donor was employed in 16 patients (53%), the remaining 14 patients (47%) were transplanted from matched unrelated donors. Twenty-eight of the 30 patients engrafted. One patient died at day +6 due to veno-occlusive disease without achieving neutrophil recovery and another patient remained transfusion-dependent despite the presence of a full donor chimerism. The 5-year overall survival and transplant-related mortality was 74·4% and 25·6%, respectively. Patients younger than 10 years as well as those transplanted after 2000 showed a significantly higher overall survival and a significantly lower risk of transplant-related mortality. No difference between donor type was observed. Our data suggest that allogeneic HSCT from a related or unrelated donor was a reasonable alternative to transfusion therapy in young and well chelated DBA patients.
authors.affiliation: Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.
authors.forename: Franca
authors.initials: F
authors.lastname: Fagioli
authors.forename: Paola
authors.initials: P
authors.lastname: Quarello
authors.forename: Marco
authors.initials: M
authors.lastname: Zecca
authors.forename: Edoardo
authors.initials: E
authors.lastname: Lanino
authors.forename: Paola
authors.initials: P
authors.lastname: Corti
authors.forename: Claudio
authors.initials: C
authors.lastname: Favre
authors.forename: Mimmo
authors.initials: M
authors.lastname: Ripaldi
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.forename: Arcangelo
authors.initials: A
authors.lastname: Prete
mesh_terms: D000293:Adolescent; D000367:Age Factors; D029503:Anemia, Diamond-Blackfan / Q000401:mortality / Q000628:therapy*; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006085:Graft Survival; D006086:Graft vs Host Disease / Q000453:epidemiology / Q000209:etiology; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods* / Q000401:mortality; D006801:Humans; D007223:Infant; D007558:Italy / Q000453:epidemiology; D008297:Male; D012042:Registries; D012307:Risk Factors; D016019:Survival Analysis
keywords: BMT; Diamond-Blackfan anaemia; congenital red cell aplasia; iron overload; neoplasm