Abstract
Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by congenital abnormalities and chromosomal breakages with the occurrence of hematological and solid malignancies. FA is the most common type of inherited bone marrow failure and poses tremendous challenges. FA patients are uniquely hypersensitive to hematopoietic stem cell transplantation (HSCT) conditioning agents due to the underling chromosomal instability. HSCT has shown important progress in the last years, especially after the introduction of fludarabine and the reduction of cyclophosphamide in the preparative regimen. For patients with HLA-identical-related donors HSCT should be performed as first-line therapy, for patients with alternative donors HSCT remains a therapy with increased morbidity and mortality.
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