Fanconi anemia is a hereditary disease caused by mutations in certain genes known as FA genes. These genes provide instructions to help the body repair certain types of DNA damage. Healthy people's cells often repair DNA damage, but cells affected by Fanconi anemia cannot make these repairs. In people with Fanconi anemia, certain cells can die or stop working properly.

You can be screened for Fanconi anemia based on your signs and symptoms or if you have a close family member who has Fanconi anemia. Usually, signs and symptoms of Fanconi anemia occur at birth or early in childhood, between the ages of 5 and 10 years. Children may have slowed growth and development, including delayed puberty or symptoms of anemia, such as fatigue, shortness of breath, and easy bruising.

Fanconi anemia can lead to serious complications, such as bone marrow failure, which occurs when the bone marrow stops making as many blood cells as possible. This can lead to a low blood cell count or severe aplastic anemia. Cancers such as acute myeloid leukemia (AML) external link myelodysplastic syndromes (MDS) external link are other possible complications of Fanconi anemia.

To diagnose Fanconi anemia, your or your child's doctor may look for dark spots on the skin called café au lait spots. The most common test for Fanconi anemia is a blood test called a chromosomal break test. The treatment for Fanconi anemia depends on your age and how well your bone marrow makes new blood cells. Treatment may include a blood and bone marrow transplant, blood transfusions, or medications to help your body make more red blood cells. Researchers are also studying new and promising treatments for Fanconi anemia, including genetic therapies. If diagnosed with Fanconi anemia, you or your child will benefit from lifelong monitoring, including regular blood and bone marrow tests and making healthy lifestyle changes to manage complications.