Peripheral Blood Stem Cell Transplantation in Fanconi Aplastic Anemia: Report of Ten Cases.

Allogeneic hematopoietic stem cell transplantation (SCT) from healthy donors is the only treatment modality for the correction of hematological abnormalities in Fanconi aplastic anemia (FAA) patients. We have performed SCT by using two different non total body irradiation conditioning regimens. While anti-thymocyte globulin (ATG, 10–30mg/kg/day, 3 days), cyclophosphamide (5mg/kg/day, 4 days) and thoraco-abdominal radiation (total 5Gy) were used for six patients (regimen A), fludarabine (120–150mg/m2 totally), cyclophosphamide (10mg/kg/day, 4 days), ATG (30mg/kg/day, 3 days) were given to four patients (regimen B). Six of the patients received regimen A and 4 regimen B. Donors were HLA-matched sibling in 5, HLA-matched parent in 2, partly HLA-matched parent in 2 and HLA-matched unrelated donor in one. All patients and donors were screened by diepoxybutane (DEB) test. Seven of the patients were DEB positive. All donors were DEB negative. Median age of the patients was 10 years. All patients received antimicrobial, antifungal prophylaxis and intravenous immunoglobulin (IVIG, 500 mg/kg weekly) from day −7 to day +180. Cyclosporin A (CsA) was used for graft-versus-host disease (GVHD) prophylaxis in eight patients and CsA plus mycophenolate mofetil in one matched unrelated patient. Neutrophil and platelet engraftment occurred in all patients on day 10 (median) and day 21 (median), respectively. Grade II-IV acute GVHD occurred in two patients who received regimen A. Conditioning-related toxicity was milder in regimen B than that in regimen A. Three patients succumbed from complications of grade IV acute GVHD, post-transplant acute myeloid leukemia and fungal pulmonary infection in regimen A group. All of the regimen B group were alive with normal hematological parameters. Totally, seven patients are alive with sustained engraftment and transfusion independent with median follow-up 19 months (range 2–50). We conclude that fludarabine based conditioning regimen is well tolerated and ideally suited to reduce regimen-related toxicities while achieving sustained engraftment in FAA patients SCT using sibling, related and unrelated donor.