Fanconi Anemia

Fanconi anemia (FA) is a rare inherited condition that affects your bone marrow and many other parts of your body. If you have Fanconi anemia, your bone marrow doesn’t create healthy blood cells and platelets. People with FA have an increased risk of developing blood disorders and some kinds of cancer. FA also causes physical abnormalities that can affect people’s organs and appearances.

Diagnosis: Most of the time, healthcare providers diagnose Fanconi anemia while investigating or treating related conditions, including cancer, progressive bone marrow failure, or physical abnormalities.

  • Physical abnormalities: About 60% of people diagnosed with FA have physical abnormalities that affect the shape and size of parts of their bodies and organs.
  • Progressive bone marrow failure: About half of children and adults who have FA have symptoms of bone marrow failure. Most children with FA develop bone marrow failure symptoms by age 10. Nearly all adults who have FA develop these symptoms by age 50.
  • Cancer: People who have FA often develop acute myeloid leukemia (AML) or tumors in their head, neck, skin, gastrointestinal system, or genital tract. About 30% of adults who have FA were receiving cancer treatment when diagnosed with FA.

As a result, healthcare providers typically diagnose the conditions that FA causes and then diagnose FA.

Who is affected: Typically, healthcare providers focus on treatments to manage blood disorders that FA causes, including:

  • Bone marrow transplant: Healthcare providers may recommend a bone marrow transplant to treat leukemia, pre-leukemia, or bone marrow failure.
  • Androgen therapy: This treatment stimulates your red blood cell production. Healthcare providers may recommend this treatment if you have anemia.
  • Synthetic growth factors: Growth factors stimulate your bone marrow to make more red and white blood cells. Healthcare providers may recommend synthetic versions to boost bone marrow blood cell production.
  • Surgery: Healthcare providers may use surgery to correct physical abnormalities or repair damaged organs.

How does Fanconi anemia affect my or my child’s body?
Fanconi anemia may affect your or your child’s body in many different ways:

  • About 75% of children born with FA have physical abnormalities that may affect their appearance and some of their internal organs.
  • About 90% of people with FA have bone marrow failure or lack of function. That means their bone marrow doesn’t make enough healthy blood cells. People with bone marrow failure can develop blood disorders such as aplastic anemia and myelodysplastic syndrome (MDS). MDS is a form of pre-leukemia.
  • Between 10% and 30% of people with FA develop certain cancers, including leukemia. They may have cancer at earlier ages than people who don’t have Fanconi anemia.