Fanconi anemia causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Causes
FA is primarily an autosomal recessive genetic condition. There are at least 13 genes of which mutations are known to cause FA: A, B, C, D1, D2, E, F, G, I, J, L, M and N. FANCB is the one exception to FA being autosomal recessive, as this gene is on the X chromosome. For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. If both parents are carriers, there is a 25% risk with each pregnancy for the mother to have an affected child. Approximately 1,000 persons worldwide presently suffer from the disease. The carrier frequency in the Ashkenazi Jewish population is about 1/90. Genetic counseling and genetic testing is recommended for families that may be carriers of Fanconi anemia.
