What is FA?

Fanconi anemia (FA) is a rare genetic disease caused by mutations in any of the known 23 genes (including genes such as BRCA1 and BRCA2) that play a role in the FA DNA repair pathway. Dysfunctional DNA repair in all cells of the body means that people living with FA have a very high risk of developing bone marrow failure and cancer in addition to many other systemic issues. FA affects both males and females equally and is found in all ethnic groups.

A DNA Repair Disorder and Cancer-Susceptibility Disease

When our organization was founded in 1989, FA was thought to be a childhood blood disease that led to bone marrow failure and in some cases, leukemia.

However, research has shown that FA is actually a cancer-susceptibility disease with broader implications for cancer research and treatment. We now know that faulty DNA repair is what causes FA and that individuals with the disease have an extremely high risk of developing cancer at a young age.

The DNA repair dysfunction associated with FA means that cells have less ability to repair themselves and as a result, errors in these cells will increase over time – causing cancer and often bone marrow failure. This classifies the disease as a cancer-predisposition or cancer-susceptibility disease. Not only do people with FA face an increased risk of developing cancer, but they also exist in a world where there are little to no treatment options other than surgery because traditional chemotherapy and radiation therapies may have adverse side effects.

A Journey of Resilience

No Longer Just a Childhood Disease

Decades ago, children with FA, often diagnosed with bone marrow failure or acute myeloid leukemia (AML), rarely survived to adulthood. There is now a growing population of adults living with FA because of research that resulted in advancements in cell transplants, the only current curative option for treating the hematologic (blood) issues of FA. In fact, in our network there are now more adults living with FA than children, reflecting an emerging population of adults that was not present even just a decade ago.

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What Symptoms Lead to Diagnosis?

FA is typically diagnosed before children are 12 years old, but in some cases, no symptoms are present until adulthood. People with FA are usually smaller than average. They may feel extreme fatigue and have frequent infections. Nosebleeds or easy bruising may be a first sign of the disease. Blood tests may reveal a low white cell, red cell or platelet count or other abnormalities. Sometimes myelodysplasia, AML, or squamous cell carcinoma in a young adult is the first sign of FA.

FA is sometimes evident at birth through a variety of physical manifestations. These may include any of the following:

  • Hand and arm anomalies: misshapen, missing or extra thumbs or an incompletely developed or missing radius (one of the arm bones)
  • Skeletal anomalies of the hips, spine, or ribs
  • Kidney problems, including missing or horseshoe kidney
  • Skin discoloration (café-au-lait spots); portions of the body may have a suntanned look
  • Small head or eyes
  • Developmental disabilities
  • Low birth weight
  • Gastrointestinal difficulties
  • Small reproductive organs in males
  • Defects in tissues separating chambers of the heart

Where do

People with FA go for the best treatment?

It is recommended that whenever possible, people with FA be cared for at select comprehensive care clinics that specialize in FA.


FA may affect multiple systems of the body, including hematologic issues, endocrine (hormone) disorders, arms and hand abnormalities, gynecological and/or dermatological issues, difficulties with nutrition and/or hearing, and increased risk of solid tumors (cancer), especially of the head and neck. Comprehensive FA care clinics host interdisciplinary teams that have experience with treating all aspects of the disease.

The best resource for information detailing the numerous complications caused by FA is the Fanconi Anemia Clinical Care Guidelines.

What is Known About Bone Marrow Failure?

Bone marrow failure is one of the most common and serious complications of FA. DNA repair defects caused by mutations in FA genes in bone marrow stem cells lead to reduced production of blood cells, which can cause anemia, infections, and leukemia. People with FA may require regular blood transfusions and eventually an allogeneic hematopoietic stem cell transplant (HSCT) to treat the bone marrow failure.

An HSCT is a medical procedure that destroys the stem cells in a patient’s bone marrow and replaces them with stem cells from a matched or partially matched related or unrelated donor’s bone marrow. Research into FA gene discovery and HSCTs led to pivotal advancements in treating BMF.

Bone marrow transplant success rates for FA patients with a matched unrelated donor have risen from 0% in 1989 to over 87% today in some transplant centers that specialize in FA. Matched sibling donor transplants have risen from a 35% success rate to close to 100% today in those centers. Haploidentical transplants (which allow the use of stem cells from donors who aren’t perfect matches) for people with FA are also seeing increased success. Thanks in large part to that research, kids with FA now live longer and are reaching adulthood.

Why is Cancer Such a Threat for People with FA?

Advanced age for people with FA has revealed more FA-related issues, however, with one major problem at the forefront: cancer. Young adults – and even teenagers – with FA may develop aggressive cancers typically seen in 60 and 70-year-olds in the general population.

Head and neck cancer and anogenital cancers are the most diagnosed solid tumors and cancer is now the main cause of death in adulthood for patients with FA. Depending on the type of cancer, the incidence of FA cancers is 500- up to 3,000-fold higher than in the general population. With most children with FA reaching adulthood, it is even more urgent to find safer, better treatments as fast as possible.

There is no current curative treatment for FA cancer.  Until new therapeutic and preventative measures are available, the best approach is to focus on reducing the risk of developing cancer. It’s important to avoid smoking and drinking alcohol, as well as exposure to second-hand smoke. Maintaining good oral hygiene and getting regular check-ups of the mouth and throat to screen for cancer is important.

If cancer is found, surgery is the best option for treatment. Radiation and chemotherapy can be used in advanced cases, but they can have serious side effects and should only be used by experienced doctors who can prevent and treat any associated problems.

Key Takeaways

  • Fanconi anemia (FA) is a rare genetic disease caused by a mutation in one of the 23 known FA genes.
  • Even though the disease is called “Fanconi anemia”, FA is a cancer-predisposition or cancer-susceptibility disease caused by mutations in genes involved in DNA repair.
  • People with FA have an extremely high risk of developing several types of cancer at a young age.
  • FA affects both males and females equally and is found in all ethnic groups.
  • FA may be evident at birth through physical manifestations such as hand and arm anomalies, skeletal anomalies, and skin discoloration.
  • FA may cause low birth weight, developmental disabilities, and defects in tissues separating chambers of the heart.
  • Bone marrow failure is a common and serious complication of FA. Patients may require regular blood transfusions and allogeneic hematopoietic stem cell transplants to treat bone marrow failure.
  • FA is typically diagnosed before children are 12 years old, but sometimes there are no symptoms until adulthood.
  • Nosebleeds or easy bruising may be a first sign of the disease, and blood tests can reveal abnormalities.
  • Comprehensive care clinics specific to FA are recommended for patients whenever possible.
  • FA may affect multiple systems of the body, and treatment may involve addressing issues such as hematologic, endocrine, and gynecological or dermatological problems, as well as hearing difficulties and increased risk of solid tumors.
  • A cell transplant is the standard of care treatment option for bone marrow failure, and while research is underway to develop treatments for cancer, prevention and early detection are key to positive outcomes.
Join us at the upcoming #FCFSymposium and FA Adult Retreat September 19- 22 in Charlotte, North Carolina.
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