What is fanconi anemia?
Fanconi anemia (FA), named for Swiss pediatrician, Guido Fanconi, is a very rare, primarily recessive genetic 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.
Fanconi anemia is an inherited disease that can lead to bone marrow failure and cancer. Though considered primarily a blood disease, FA may affect all systems of the body. It is a complex and chronic disorder that is psychologically demanding. FA is also a cancer-prone disease, affecting patients decades earlier than the general population.