Hematopoietic Cell Transplantation for Fanconi Anemia

This chapter reviews the pathogenesis and pathology, diagnosis and treatment of Fanconi anemia (FA) with particular emphasis on the expected results of allogeneic hematopoietic cell transplantation (HCT). Children and adults with FA have an extraordinary predisposition for the development of marrow failure and leukemia. Understanding the pathophysiology of FA marrow failure and leukemogenesis could help to find ways to ameliorate the disease progression as well as explain certain clinical observations. The presence of somatic mosaicism may be of important predictive value regarding the clinical course of the patient with FA. As molecular data have become increasingly available, the authors explore the possibility of genotype-phenotype correlations. Fewer patients with an HLA-identical sibling donor receive radiation in an attempt to reduce the late effects commonly associated with radiation. The possibility of using gene transfer methods for correcting genetic diseases of hematopoietic stem cells (HSCs) has received much attention.