What is Fanconi anemia and how is it diagnosed?
Fanconi anemia (FA), named for Swiss pediatrician, Guido Fanconi, is one of the inherited anemias that lead to bone marrow failure (aplastic anemia). It is a recessive disorder: if both parents carry a defect (mutation) in the same FA gene, each of their children has a 25% chance of inheriting the defective gene from both parents. When this happens, the child will have FA. FA occurs equally in males and females. It is found in all ethnic groups. Though considered primarily a blood disease, it may affect all systems of the body. Many patients eventually develop acute myelogenous leukemia (AML). Older patients may develop other cancers. Many patients do not reach adulthood. Fanconi anemia patients are usually smaller than average. FA usually reveals itself when children are between the ages of 3 and 12, but in rare cases no symptoms are present until adulthood. Patients may feel extreme fatigue and have frequent infections. Nosebleeds or easy bruising may be a first sign. Blood tests may
