What is Fanconi anemia?
Fanconi anemia is caused by changes in genes that are responsible for copying and repairing DNA in cells. These changes result in a high incidence of breaks in an individual’s chromosomes. Fanconi anemia is characterized by reduced production of all types of blood cells in the body. While many serious problems are associated with this disorder, the most difficult is an increased risk for cancer.

Various forms of Fanconi anemia can occur in individuals from any ethnic background. There are at least 13 genes currently known to cause this disorder. The symptoms for each group are similar, and most are inherited in an autosomal recessive pattern. One form, group D1 (FANCD1), is caused by mutations in the BRCA2 gene, which is a known cancer predisposition gene. Another specific form, Fanconi anemia group C, is the most common found in Ashkenazi Jews.

What are the symptoms?
Fanconi anemia usually presents in individuals between ages 3 and 12, though in rare cases symptoms may not appear until adulthood. The disorder may cause reduced blood cell production (bone marrow failure), birth defects, both skeletal (notably in the hands, arms and torso) and internal (problems with the heart, kidneys and GI tract), short stature, skin discoloration, extreme fatigue, hearing loss and reduced fertility. Some patients with this condition exhibit mental retardation and learning disabilities. Up to 30% of patients will develop leukemia or other cancers.

Is there treatment available?
There is no cure for the disorder itself, but there are several treatments available to treat the bone marrow failure which causes blood defects.

• Androgens, or male hormones, and growth factors can stimulate the production of red blood cells, platelets and white blood cells in some affected individuals. These treatments are not a permanent solution, and may become less effective over time. . These treatments also have the potential for toxicity. These options should be considered very carefully in conjunction with bone marrow transplants, as they may adversely affect the treatment.
• Bone marrow transplants introduce healthy tissue after a patient’s defective bone marrow has been destroyed by chemotherapy and radiation. This cures the blood deficiency and lowers the risk of leukemia, but it does not reduce the risk of solid tumors. The process is not without risk and requires careful consultation with physicians.

What is the life expectancy of someone with Fanconi anemia, group C?
Most individuals with Fanconi anemia do not live past 30.

How do I find out if I am a carrier?
Genetic testing for an alteration in a gene, which involves a simple blood test, detects 99% of carriers of Fanconi anemia, group C. Visit Screening and Counseling to learn more. The Center encourages prospective parents to meet with a genetic counselor and get tested before conception, in order to make the best health care decisions for their families.

How is Fanconi anemia diagnosed?
Fanconi anemia is diagnosed through a specialized type of chromosome testing or specific testing of one of the genes associated with the disease.

Is prenatal diagnosis available?
Testing is available to those with an affected child or to couples identified by DNA testing as carriers.

How can I find out more about Fanconi anemia?

Fanconi Anemia Research Fund 
The Fanconi Anemia Research Fund helps to find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide.

Hope for Henry Foundation 
HFHF improves the lives of children with life-threatening illnesses by providing carefully chosen gifts and specially-designed programs to entertain and promote comfort, care and recovery. HFHF brings smiles and laughter, hope and magic into the lives of these children and their families.

UK & Ireland Fanconi Anemia Family/Clinical Network 
The Fanconi Anemia Network serves as a site of education, resources, and support to those affected by Fanconi anemia. It is available in several other languages.

Fanconi Canada 
Fanconi Canada raises money for research into finding a cure and/or treatments for Fanconi anemia. Fanconi Canada also raises awareness among members of the general public and the medical community about Fanconi anemia and provides support to affected Canadian families.

International Fanconi Anemia Registry 
The Rockefeller University Hospital is home to the IFAR, established in 1982 in order to study a large number of patients exhibiting the full spectrum of diverse features of FA in hope of finding treatments and/or a cure.

Fanconi Anaemia Australia
Fanconi Anaemia Australia provides a variety of support services to families suffering Fanconi anemia within Australia, in addition to providing broad-based education to treating doctors, care providers, families and the general public.