title: Bone marrow transplantation for Diamond-Blackfan anemia.
abstract: Diamond-Blackfan anemia (DBA) is a rare disorder usually diagnosed in the first year of life. Although most cases respond to corticosteroids, > 20% are, or become, steroid-resistant. We report 10 children with DBA who received a bone marrow transplant from an HLA-identical sibling (n = 8), maternal (n = 1) or unrelated (n = 1) donor and reported to the International Bone Marrow Transplant Registry. Among eight recipients of HLA-identical sibling transplants, six are alive 5-87 months after transplant with no evidence of DBA and with Karnofsky performance scores of 90-100%. The two recipients of non-HLA-identical sibling transplants died < 2 weeks after transplant. The actuarial 2-year probability of survival for the eight sibling transplants was 72 (37-92)% (95% confidence interval).
authors.affiliation: International Bone Marrow Transplant Registry, Health Policy Institute, Medical College of Wisconsin, Milwaukee 53226, USA.
authors.forename: H
authors.initials: H
authors.lastname: Mugishima
authors.forename: R P
authors.initials: RP
authors.lastname: Gale
authors.forename: P A
authors.initials: PA
authors.lastname: Rowlings
authors.forename: M M
authors.initials: MM
authors.lastname: Horowitz
authors.forename: A M
authors.initials: AM
authors.lastname: Marmont
authors.forename: S R
authors.initials: SR
authors.lastname: McCann
authors.forename: K A
authors.initials: KA
authors.lastname: Sobocinski
authors.forename: M M
authors.initials: MM
authors.lastname: Bortin
mesh_terms: D000293:Adolescent; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000401:mortality / Q000628:therapy*; D005260:Female; D006648:Histocompatibility; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D015996:Survival Rate