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 21 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 21 genes, so we anticipate that additional FA genes will be discovered in the future. FA occurs equally in males and females. It is found in all ethnic groups. Research has added years to the lives of people with FA. Decades ago, children rarely survived to adulthood. Now, there are adults with FA that live into their 30s and beyond. FA 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 and Frequently Asked Questions.

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.

  • To learn more about the Fund and find financial information, click here.
  • To read about the history of the Fanconi Anemia Research Fund, click here.
  • To read an article written by Dave and Lynn Frohnmayer detailing the adversities of FA, click here.

of note

The first Joel Walker Scientific Focus Meeting has been announced learn more...

FARF Receives Grant to Expand Development Program learn more...

Despite a rare, incurable disease, Amy Frohnmayer Winn ran joyfully through life learn more...