Fanconi anemia (FA) is a rare inherited disease
characterized by multiple physical abnormalities, bone marrow failure, and a higher
than normal 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
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, teenagers and young adults with Fanconi anemia are treated at
Dana-Farber/Boston Children's through our Bone Marrow Failure Program, recognized as one of the nation’s best pediatric treatment
and research programs for bone marrow failure and related conditions. Our
patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials investigating new treatments.
Dana-Farber/Boston Children's is also home to one of the largest and most
experienced pediatric stem cell transplant centers in the world. Stem
cell (bone marrow) transplant is currently the only cure for the blood defects
of Fanconi anemia.
The most common symptoms of Fanconi anemia are:
These symptoms are due to low numbers or red blood cells, white
blood cells or platelets.
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:
Additional treatment alternatives are currently being
The Bone Marrow Failure Program at Dana-Farber/Boston
Children'sIn 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.
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 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.
More about clinical trials
For many children with rare or hard-to-treat conditions, clinical trials
provide new options.
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.
Leslie Lehmann, MD, explains stem cell transplants. Dana-Farber/Boston Children's has one of the most experienced pediatric stem cell transplant programs in the United States.