Fanconi anemia is an inherited 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. The cells of healthy people often repair DNA damage, but cells affected by Fanconi anemia cannot make these repairs. In people who have Fanconi anemia, certain cells may die or stop working properly.
You may be screened for Fanconi anemia based on your signs and symptoms or if you have a close relative who has Fanconi anemia. Most often, signs and symptoms of Fanconi anemia appear at birth or early in childhood, between 5 and 10 years of age. Children may have delayed growth and development, including delayed puberty or anemia symptoms, such as fatigue, shortness of breath, and bruising easily.
Fanconi anemia can lead to serious complications such as bone marrow failure, which happens when the bone marrow stops making as many blood cells. This can lead to low blood cell counts or severe aplastic anemia. Cancers such as acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) 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 breakage test. Treatment for Fanconi anemia depends on your age and how well your bone marrow is making new blood cells. Treatment may include a blood and bone marrow transplant, blood transfusions, or medicine 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, which may include regular blood and bone marrow tests and making healthy lifestyle changes to manage complications.
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