What is Fanconi anemia?

Fanconi anemia (FA) is one of the inherited anemias that leads to bone marrow failure (aplastic anemia). It is primarily 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. Scientists have now discovered 16 FA or FA-like genes. These genes account for over 95% of all known FA patients. Some patients do not appear to have mutations in these 16 genes, so it is anticipated that additional FA genes will be discovered in the future. FA occurs equally in males and females. It is found in all ethnic groups. The current median lifespan for a patient with FA is 33 years, although there are now patients living into their 30s, 40s and 50s. Though considered primarily a blood disease, it can affect all systems of the body. Many patients eventually develop acute myeloid leukemia (AML) at a very early age. FA patients are extremely likely to develop a variety of cancers and at a much earlier age than patients in the general population. Patients who have had a successful bone marrow transplant and are therefore cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer. For more information about Fanconi anemia, view our FA FACT Sheet in English. and Español.

What is the Fanconi Anemia Research Fund?

Lynn and Dave Frohnmayer started the Fanconi Anemia Research Fund, Inc. in 1989 to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide. Read about the history of the Fanconi Anemia Research Fund.

Please see this recent article written by Dave and Lynn Frohnmayer detailing the adversities of FA.

of note

Four video presentations from the 2014 Family Meeting are available now. learn more...

Register Now! Fanconi Anemia Scientific Symposium, September 18-21 learn more...

Seattle gene therapy clinical trial opens to children 4 years and older learn more...