Allogeneic Hematopoietic Stem Cell Transplantation for Adult Patients with Fanconi Anemia.

Background And Objectives: Fanconi anemia (FA) is a rare genetic disorder caused by an impaired DNA repair mechanism which leads to an increased tendency toward malignancies and progressive bone marrow failure. The only curative management available for hematologic abnormalities in FA patients is hematopoietic stem cell transplantation (HSCT). This study aimed to report the results of HSCT in adult or adolescent FA patients.

Patients And Methods: Twenty FA patients with ages of 16 or more who underwent HSCT between 2002 and 2015 enrolled in this study. The stem cell source was peripheral blood, and all patients had a full human leukocyte antigen (HLA) matched donor, 19 patients had a sibling donor, and one had full matched other related. Indications for HSCT were severe bone marrow failure or dependence on blood products transfusion and failure of medical treatment to sustain peripheral blood elements at an acceptable level.

Results: Eleven patients were female and 9 male (55% and 45%). Mean age was 24.05 years. Mortality rate was 50% (n=10), and the leading cause of death was graft versus host disease (GVHD) which occurred in 5 patients (4 cases from acute GVHD and one from chronic GVHD). Survival analysis showed an overall 5-year survival of 53.63% (95% confidence interval: 29.53%-72.74%) and 13 year survival of 45.96 % (95% confidence interval: 22.08%-67.03%) among patients.

Conclusion: HSCT is the only curative management for bone marrow failure in FA patients. But the high rate of mortality and morbidity in adolescent and adult patients makes it a challenging issue.