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.
|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.|
|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.|