Fanconi anaemia (FA) is an inherited DNA-repair disease that may lead to bone marrow failure (aplastic anaemia), leukaemia, and/or solid tumors. 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 23 FA or FA-like genes. 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, 40s and beyond. In late 2017, for the first time ever, there were more adults living with Fanconi anaemia than children (according to a registry held by Fanconi Anemia Research Fund). This reflects an emerging population of adults that was not present even just a decade ago. This growth in the adult population could be attributed to the dramatic increase in survival following stem cell transplants over the last 20 years. As a result, more children are reaching adulthood.
FA can affect all systems of the body. The types and severity of symptoms can differ widely from person to person. Many people with FA eventually develop acute myeloid leukaemia (AML). 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.
The Fanconi Anemia Research Fund (FARF) is the world leader in advancing research for better treatments and a cure for Fanconi anemia.