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
Famous quotes containing the words genetic and/or prevalence:
“We cannot think of a legitimate argument why ... whites and blacks need be affected by the knowledge that an aggregate difference in measured intelligence is genetic instead of environmental.... Given a chance, each clan ... will encounter the world with confidence in its own worth and, most importantly, will be unconcerned about comparing its accomplishments line-by-line with those of any other clan. This is wise ethnocentricism.”
—Richard Herrnstein (1930–1994)
“That the public can grow accustomed to any face is proved by the increasing prevalence of Keith’s ruined physiognomy on TV documentaries and chat shows, as familiar and homely a horror as Grandpa in The Munsters.”
—Philip Norman, British author, journalist. The Life and Good Times of the Rolling Stones, introduction (1989)