Background: Fanconi anemia (FA) is a heterogeneous autosomal recessive (and rarely X linked) disorder, which is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancies. Hematopoietic stem cell transplantation (HSCT) is the only definitive treatment for the hematological manifestations in FA.
Procedure: Twenty-seven patients with FA underwent HSCT using fludarabine (Flu) based regimen at our center between April 2004 and May 2014. One patient who developed acute leukemia before HSCT was excluded from the study. The remaining 26 patients were included. The median age of the patients at the time of transplantation was 9.6 years (range 5.6-17.0 years) and male/female ratio was 19/7. Donors were Human leukocyte antigen (HLA)-identical sibling in 18 patients, HLA-identical other relatives in six patients, and HLA 1-antigen mismatched sibling in two patients. Conditioning regimen consisted of Flu, cyclophosphamide, and antithymocyte globulin.
Results: All patients engrafted but one developed poor graft function and underwent second HSCT. Acute graft versus host disease (GVHD) (≥grade 2) occurred in two patients (7.6%) and chronic GVHD in one patient (3.9%). Three patients developed venoocclusive disease (11.5%). Survival rate was 96.2% (25/26) at a median follow-up of 54 months (10-131 months) and all patients who survived were in good clinical condition. None of the patients developed secondary malignancy during the follow-up period.
Conclusions: The present study from Turkey, a middle-income country, shows successful transplant outcome with low toxicity using Flu-based conditioning in patients with FA who underwent HSCT from HLA-related donors.
Keywords: Fanconi anemia; fludarabine; transplantation.
© 2015 Wiley Periodicals, Inc.