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. There are various forms of Fanconi anemia that can occur in individuals from any ethnic background. One specific form, Fanconi anemia group C, is the most common form in Ashkenazi Jews.
Disease frequency:
Approximately 1 in 32,000 in the Jewish population. One in 100,000 in the general population.
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 99% of carriers of Fanconi anemia group C.
Prenatal diagnosis:
Available through genetic testing in couples with a previous affected child or couples identified as being carriers.
