Fanconi anemia (FA) is a rare inherited disease characterized by multiple physical abnormalities, bone marrow failure, and higher risk of cancer. Researchers have shown that defects (mutations) in one of at least 15 different genes can cause Fanconi anemia. The proteins normally produced by these genes form a kind of cellular “machine” that helps detect and repair damaged DNA in blood stem cells and other cells in the body (a normal, daily occurrence). In Fanconi anemia, that DNA repair is slowed. Therefore, blood stem cells (in the bone marrow) accumulate damaged DNA and do not survive.
Fanconi anemia is usually discovered between birth and age 10-15 years; however, there have been cases identified in adulthood. Fanconi anemia occurs equally in males and females. It has been identified in all ethnic groups. Researchers continue to clone and characterize the genes responsible for Fanconi anemia, which is bringing considerable progress in the diagnosis and understanding of this disease.
Children and adolescents with Fanconi anemia are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure Program. Dana-Farber/Boston Children's is also home to one of the largest and most experienced pediatric stem cell transplant centers in the world. At present, stem cell (bone marrow) transplant is the only cure for the blood defects in Fanconi anemia.
The most common symptoms of Fanconi anemia are:
About 75% of children with Fanconi anemia have one or more of the following physical characteristics:
Sometimes leukemia or myelodysplasia is the first sign of Fanconi anemia. Individuals with Fanconi anemia may only have a few of the clinical features described above or none at all.
Specific treatment for Fanconi anemia and its complications will be determined by your child’s physician based on:
Treatment options for Fanconi anemia may include, but are not limited to, the following:
The Bone Marrow Failure Program at Dana-Farber/Boston Children's
In addition to providing information and access to local and national research initiatives, our Bone Marrow Failure Program offers multidisciplinary care (physician specialists, dentists, nurse practitioners, social workers) and consultative services for patients with inherited (genetic) and acquired bone marrow failure syndromes, including Fanconi anemia. This program is part of the Blood Disorders Center at Dana-Farber/Boston Children's and works in partnership with the Stem Cell Transplant Center at Dana-Farber/Boston Children's.
Our research involves a broad range of activities and services that ultimately will lead to the better molecular understanding, diagnosis, and treatment of children with Fanconi anemia. Activities in the Fanconi Anemia Center include:
Fanconi Anemia Research Fund, Inc.
This non-profit organization was founded in 1989 by the parents of children with Fanconi anemia. The fund’s mission is to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide. For more information, please visit www.fanconi.org.
Certain forms of cancer tend to develop in Fanconi anemia patients at a young age and may come back after treatment. These include:
The average lifespan for people with FA is 20 to 30 years. Patients with a large number of birth defects are at higher risk of early-onset severe aplastic anemia, while those with fewer abnormalities are more likely to develop leukemia or solid tumors as young adults. The most common cause of death is bone marrow failure, leukemia or solid tumors.
Dana-Farber/Boston Children's has one of the largest and most experienced pediatric stem cell transplants programs in the United States. Watch the video to learn how stem cell transplants work.