Abstract
Fanconi anemia (FA) is a heterogeneous disease characterized by spontaneous chromosomal breaks and abnormal DNA repair. Major clinical problems in FA include congenital abnormalities, endocrinopathies, early onset bone marrow failure and increased risk of myelodysplastic syndrome, acute leukemia and solid tumors. To date, 15 different genes have been shown to cause FA, all of which have some role in DNA double-strand break repair. Very few strict genotype–phenotype associations have been identified and clinical manifestations vary widely from patient to patient, most likely due to modifier genes, environment and chance effects. Hematopoietic stem cell transplantation is the only proven cure for the hematopoietic manifestations of FA and aggressive lifelong surveillance for solid tumors is essential.
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