Ashkenazi Disorders: Mendelian

Fanconi Anemia

Fanconi anemia is a disorder characterized by a reduced production of all types of blood cells in the body. The most serious problem associated with this disorder is an increased risk for cancer. The underlying problem in this condition affects how the genetic information is copied in the cells of the body. The disorder can be seen in individuals from any ethnic background, but one specific gene alteration has been noted in individuals of Jewish ancestry. No effective treatment exists at this time.

Disease frequency:Unknown
Carrier frequency:Approximately 1 in 89 for a specific gene alteration noted in those of Jewish ancestry.
Diagnosis:By a specialized type of chromosome testing or specific testing of one of the genes involved in Fanconi anemia.
Inheritance:Autosomal Recessive
Carrier testing:Available by testing for a specific gene alteration. Testing detects 95% of carriers for this specific type of Fanconi anemia.
Prenatal diagnosis:Available through genetic testing in couples with a previous affected child or couples identified as being carriers.

Technical Information on Fanconi Anemia

Additional Information:
Fanconi Anemia Research Fund, Inc. (FARF)
1801 Willamette St. Ste. #200
Eugene, OR 97401
(800) 828-4891
(541) 687-4658
fax: (541) 687-0548
email: info@fanconi.org
www.fanconi.org

Fanconi Canada
http://www.fanconicanada.org