Allogenic Hematopoietic Stem Cell Transplantation from Related Donors in Fanconi Anemia

Introduction: Allogeneic hematopoietic cell transplantation (HSCT) is the only therapeutic modality capable of correcting the hematologic manifestations of Fanconi Anemia (FA). The development of well tolerated, immunosuppressive conditioning regimens for FA patients undergoing HSCT has proven to be a rather challenging task for hematologists. Methods: We analyzed the outcome of 30 FA patients (median age at HSCT was 9 years age range, 2-32 years) who underwent HSCT between 1992 and 2008 in Shariati Hospital Tehran, Iran. . Patients were transplanted from either an HLA-identical sibling or matched relative (n=29), or an HLA-partially matched relative(n=1). Four different conditioning regimens without radiation were used .Graft versus host disease (GVHD) prevention consisted of cyclosporine with methotrexate or cyclosporine alone. Results: The median follow-up duration for survivors was 2.7 years (ranged 1 month to 12 years). The median survival time was 8.5 months. The 5-year overall surviv l was 43.6% (SE=10.0%). All surviving patients had normal blood counts with full donor engraftment. The median survival rate for patients who did or did not receive fludarabine in preparation for the allograft was not statistically significant (p-value=1.0). Conclusion: Our study demonstrates that none of the studied variables significantly affected the survival, including sex, age, radiation-free conditioning regimens, corticosteroids before transplant, pre-transplant transfusions, acute GVHD and congenital abnormalities. The availability of better diagnostic tools to predict clinical course of FA, and modification of the conditioning regimen should improve survival and long-term consequences of therapy for patients in the future.