Fanconi Anemia

Occurring in all ethnic groups, Fanconi anemia (FA) particularly affects the  Ashkenazi Jewish population, with a carrier frequency of 1/87-89. FA is a recessively inherited aplastic anemia caused by bone marrow failure. As in other recessive disorders, if both parents carry the same defective  FA gene, each child has a one in four chance of inheriting their genes  for FA. The disease occurs equally in males and females.
Individuals with FA are usually small, and may have missing bones in the thumbs and arms. All systems of the body can be affected, but the first signs may  be easy bruising and nosebleeds. The skin becomes pigmented and many  patients eventually develop leukemia. Those who live to adulthood are  also prone to have head and neck, gynecological or gastrointestinal  cancer. Mental retardation also occurs.
The test currently used  to confirm the diagnosis is a “chromosomal breakage” test, using  chemically treated FA cells. During pregnancy, chorionic villus sampling or amniocentesis for genetic study are also available options, but not  without risk. Genetic counseling is recommended.
Treatment  depends on the extent and severity of the disease, and so far there is  no treatment that works consistently. Prevention is more effective than  treatment, because up to 80 percent of carriers can be identified by  genetic testing. An International Fanconi Anemia Registry is located in  the Rockfeller University Hospital in New York City.


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