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Fanconi Anemia (FA)


Disease characteristics
Fanconi anemia (FA) is a genetic disease that affects children and adults from all ethnic backgrounds. In Fanconi anemia white and red blood cells, as well as platelets fail to perform their responsibilities such that the body cannot successfully combat infection, hence there is fatigue, spontaneous hemorrhage or bleeding.

Prevalence
Approximately 1,000 persons worldwide presently suffer from the disease. The carrier frequency in the Ashkenazi Jewish population is about 1/90.

Mutation
FA is primarily an autosomal recessive genetic condition. There are at least 13 genes of which mutations are known to cause FA: A, B, C, D1, D2, E, F, G, I, J, L, M and N. FANCB is the one exception to FA being autosomal recessive, as this gene is on the X chromosome.

Testing criteria and symptoms
Being of Ashkenazi Jewish ancestry
Short stature, skeletal anomalies, increased incidence of solid tumors and leukemia
Bone marrow failure (aplastic anemia)
Cellular sensitivity to DNA damaging agents such as mitomycin C.

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