Fanconi anemia (FA) is a rare medical condition affecting about 1 in 131,000 people, and occurs equally in males, females and all ethnic groups. People with FA can have a variety of health issues including shortness, dark and light areas of skin, abnormalities of the arms and hands, kidney problems, heart defects, hearing problems and others. Some people with FA have no physical findings, but near
ly all people will have a decline in their blood counts over time, eventually leading to bone marrow failure. While the average life expectancy for a patient with FA is 29 years, an increasing number of patients are living into their 30s and beyond. Until recently, the most common reason for shortened survival was due to marrow failure. When the marrow fails, it no longer makes the needed numbers of red blood cells (anemia), white blood cells (increasing the risk of infection) and platelets (increasing the risk of bleeding). Today, a bone marrow transplant is the only treatment of bone marrow failure and leukemia. While bone marrow transplant is risky, discoveries at the University of Minnesota have markedly improved survival for this specific disease. In 1995, only 1 out of every 7 patients with FA survived an unrelated donor transplant; today, 6 out of every 7 are expected to survive. Despite these successes, new strategies are needed to increase the cure rate to 100% and eliminate the risks of infections and other side effects typical in transplant recipients. In addition, enhanced surveillance and earlier interventions are needed to reduce the risk of diabetes, growth failure, and cancer. Basic, translational and clinical research focused on prevention and new treatments will further improve upon the survival and quality of life of children and adults with FA. FA is something that a person is born with-even if they seem healthy as a baby. The FA genes are responsible for preventing cancer and bone marrow failure by repairing DNA damage that occurs in everyday life (from sun exposure, x-rays, chemicals in our food and surroundings). Without this restorative ability, people with FA have a significantly higher chance of developing various types of cancers as well as marrow failure. Understanding how the FA genes work is vitally important to understanding cancer and bone marrow function that impacts everyone in the general population. Research in FA will have far-reaching impact well beyond patients with this rare disease. There is already a long list of connections between FA genes and the DNA repair pathway, including genes that lead to breast and ovarian cancer susceptibility.
