BONE-MARROW TRANSPLANTATION FOR FANCONI-ANEMIA

Fanconi anemia is a genetic disorder associated with diverse congenita l abnormalities, progressive bone marrow failure, and increased risk o f leukemia and other cancers. Affected persons often die before 30 yea rs of age. Bone marrow transplantation is an effective treatment, but there are few data regarding factors associated with transplant outcom e. We analyzed outcomes of HLA-identical sibling (N = 151) or alternat ive related or unrelated donor (N = 48) bone marrow transplants for Fa nconi anemia performed between 1978 and 1994 and reported to the Inter national Bone Marrow Transplant Registry. Fanconi anemia was documente d by cytogenetic studies in all cases. Patient, disease, and treatment factors associated with survival were determined using Cox proportion al hazards regression. Two-year probabilities (95% confidence interval ) of survival were 66% (58% to 73%) after HLA-identical siblings trans plants and 29% (18% to 43%) after alternative donor transplants. Young er patient age (P .0001), higher pretransplant platelet counts (P = .0 4), use of antithymocyte globulin (P = .005), and use of low-dose (15 to 25 mg/kg) cyclophosphamide plus limited field irradiation (P = .009 ) for pretransplant conditioning and cyclosporine for graft-versus-hos t disease prophylaxis (P = .002) were associated with increased surviv al. Bone marrow transplants are effective therapy for Fanconi anemia. The adverse impact of increasing age and lower pretransplant platelet count on transplant outcome favors earlier intervention, especially wh en there is an HLA-identical sibling donor. (C) 1995 by The American S ociety of Hematology.