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Fanconi anemia is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. When congenital malformations are not prominent, diagnosis may be delayed until the onset of bone marrow failure (BMF), which occurs at a median age of 7 years.
Fanconi anemia is due to mutations in genes involved in DNA repair and genomic stability. Fifteen genes representing 15 complementation groups have been identified.
Expected prevalence at birth is at least 1/160,000.