Genetic Prevalence
FA is primarily an autosomal recessive genetic disorder. This means that two mutated alleles (one from each parent) are required to cause the disease. There is a 25% risk that each subsequent child will have FA. About 2% of FA cases are X-linked recessive, which means that if the mother carries one mutated Fanconi anemia allele there is a 50% chance that male offspring will present with Fanconi anemia.
Scientists have identified 15 FA or FA-like genes: FANCA, FANCB, FANCC, FANCD1 (BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCP and RAD51C. FANCB is the one exception to FA being autosomal recessive, as this gene is on the X chromosome.
Approximately 1,000 persons worldwide currently 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.
Because of the failure of hematologic components to develop – leukocytes, red blood cells and platelets - the body's capabilities to fight infection, deliver oxygen, and form clots are all diminished.
Read more about this topic: Fanconi Anemia
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