title: Bone marrow transplantation for diamond-blackfan anemia.
abstract: Patients with Diamond-Blackfan anemia (DBA) who are unresponsive to or intolerant of corticosteroids, experience treatment failure with other treatments, develop additional cytopenias or clonal disease, or opt for curative therapy are often treated with allogeneic bone marrow transplantation. We studied the transplantation outcomes of 61 DBA patients whose data were reported to the International Bone Marrow Transplant Registry between 1984 and 2000. The median age was 7 years (range, 1-32 years). Among 55 patients with available transfusion information, 35 (64%) had received > or =20 units of blood before transplantation. Most patients (67%) received their bone marrow grafts from an HLA-matched related donor. The median time to neutrophil recovery was 17 days (range, 10-119 days) and to platelet recovery was 23 days (range, 9-119 days). Five patients did not achieve neutrophil engraftment. The 100-day mortality was 18% (95% confidence interval, 10%-29%). Grade II to IV acute graft-versus-host disease occurred in 28% (range, 17%-39%) and chronic graft-versus-host disease in 26% (range, 15%-39%). The 3-year probability of overall survival was 64% (range, 50%-74%). In univariate analysis, a Karnofsky score > or =90 and transplantation from an HLA-identical sibling donor were associated with better survival. These data suggest that allogeneic bone marrow transplantation is effective for the treatment of DBA. Transplantation before deterioration of the performance status and from an HLA-identical sibling donor may improve survival.
authors.affiliation: Mayo Clinic Jacksonville, Jacksonville, Florida, USA.
authors.forename: Vivek
authors.initials: V
authors.lastname: Roy
authors.forename: Waleska S
authors.initials: WS
authors.lastname: Pérez
authors.forename: Mary
authors.initials: M
authors.lastname: Eapen
authors.forename: Judith C W
authors.initials: JC
authors.lastname: Marsh
authors.forename: Marcelo
authors.initials: M
authors.lastname: Pasquini
authors.forename: Ricardo
authors.initials: R
authors.lastname: Pasquini
authors.forename: Mahmoud M
authors.initials: MM
authors.lastname: Mustafa
authors.forename: Christopher N
authors.initials: CN
authors.lastname: Bredeson
mesh_terms: D000293:Adolescent; D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000401:mortality* / Q000628:therapy; D016913:Blood Component Transfusion; D016026:Bone Marrow Transplantation / Q000401:mortality*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006650:Histocompatibility Testing; D006801:Humans; D007223:Infant; D017567:Karnofsky Performance Status; D008297:Male; D020127:Recovery of Function; D012042:Registries; D012189:Retrospective Studies; D014019:Tissue Donors