What is Fanconi Anemia?

Fanconi anemia (FA) is a genetic disease that affects children and adults from all ethnic backgrounds.

The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi. It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi.

FA is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure (aplastic anemia), and cellular sensitivity to DNA damaging agents such as mitomycin C.

FA is primarily an autosomal recessive genetic disorder. There are at least 13 genes of which mutations are known to cause FA: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM and FANCN. 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 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 hemotologic components to develop - leukocytes, red blood cells and platelets - the body's capabilities to fight infection, deliver oxygen, and form clots are all diminished.

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