Fanconi anemia (FA) is a rare, genetic DNA repair disease that leads to bone marrow failure, leukemia and solid tumours. Specifically, people with FA have a much greater risk of developing acute myeloid leukemia (AML), head & neck squamous cell carcinoma, vulvar and other cancers than people without FA. 


Caused by a mutation in one of 23 identified genes, FA is an inherited disorder. It is primarily a recessive disease, meaning that if both parents carry a mutation on the same FA gene, they have a 25% chance of having a child with FA. 


FA occurs equally in males and females, and is found in all ethnicities. The chance of a baby being born with FA is about 1 in 131,000.


FA is a complex disease that can impact all systems in the body. People with FA can exhibit a variety of physiological symptoms including (but not limited to) abnormal blood counts, thumb and radial arm abnormalities, hearing loss, short stature, hormone deficiencies, developmental delays, digestive difficulties, kidney and urinary tract malformations, and reproductive issues.


Consequently FA patients need to be monitored on a regular basis - for their entire lives - by a wide array of healthcare professionals to ensure both stable blood counts and general physical good health and well-being. Even if someone with FA undergoes a successful stem cell transplant to resolve the bone marrow failure issues, THIS DOES NOT CURE THE DISEASE and they need to remain vigilant for other issues including head and neck cancers at a very young age.  


For more information on Fanconi anemia, go to the Fanconi Anemia Research Fund.


When you donate to Fanconi anemia:


You are funding life-saving research related to gene therapy, bone marrow transplants, DNA repair, and cancer.


You are investing in better outcomes for everyone touched by cancer. FA patients are 500-700 times more likely to develop cancer than the general population and at a much earlier age. At least 5 FA genes - including BRCA1 and BRCA2 - are breast cancer susceptibility genes, meaning therapies developed for FA will benefit these cancer patients too. Both FA and cancer are the result of the inability to repair DNA. The global study of FA has produced a much greater understanding of the connections between cancer and genetic instability, thereby benefiting not just FA patients but the wider population too. 


You are funding clinical trials to advance therapies for children and adults with FA. Two trials that are currently taking place for FA patients in the U.S. involve the use of metformin (this is an FDA-approved drug currently used to treat diabetes that is being studied to determine its impact on blood counts of FA patients; it is also known to have anti-cancer effects in the general population) and quercetin (a natural compound found in food that is being tested to determine if it prevents the development of squamous cell carcinoma in post-transplant FA patients).


You are providing critical services for people with FA and their families, such as  navigating the FA diagnosis, funding attendance at support meetings, providing opportunities to participate in research, distributing educational materials, and allowing for networking with other FA families around the globe. 


You are building an international network of researchers and clinicians dedicated to solving the problems of Fanconi anemia. One such example is the funding of the annual Scientific Symposium which is attended by hundreds of international FA experts including scientists, researchers, and doctors who collaborate and learn from each other to further the progress in finding effective treatments and ultimately a cure for FA.


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