Fanconi anemia (FA) is a rare inherited condition that affects your bone marrow and many other parts of your body. 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.
Fanconi anemia (FA) is a rare inherited condition that affects your bone marrow and many other parts of your body. Your bone marrow is the spongy tissue in the center of your bones that creates stem cells that become red and white blood cells and platelets. 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. People with FA that’s caused blood disorders are living longer and with fewer medical issues because they’re able to have bone marrow transplants.
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Fanconi anemia may affect your or your child’s body in many different ways:
Fanconi anemia is very rare. It affects 1 in 160,000 people worldwide. Most of the time, FA is diagnosed during childhood or young adulthood.
Fanconi anemia affects people in many different ways, starting with how our bodies develop during gestation. FA may cause different symptoms linked to many different conditions, including anemia, bone marrow failure syndrome (aplastic anemia), cancer and physical abnormalities. For example, someone with FA may be very short or have problems with their bone structure. Many people have FA but don’t have obvious signs or symptoms.
Anemia is a common sign of FA. Symptoms include:
Bone marrow failure syndrome (aplastic anemia) symptoms are similar to anemia symptoms. Other symptoms are:
People with FA are more likely to develop some kind of cancer. Symptoms for some common cancer types include:
FA can affect people’s appearance and how their bodies work. For example, some people with FA are smaller and shorter than normal. Sometimes, FA affects the size and shape of people's ears, feet, arms and hands. Other times, it affects the shape and function of their internal organs, such as their hearts, livers and kidneys. Some symptoms include:
FA is a genetic disorder caused by inherited mutations (discrete changes in genetic code) in a group of genes (genetic blueprints) for proteins. We have about 20 FA genes, but not all of them are affected when genes mutate. FA genes protect us from DNA damage that happens throughout life. When FA genes mutate, proteins that typically repair routine DNA damage don’t work properly and can’t fix damaged DNA. Here’s what happens:
There’s a 25% chance that parents who carry abnormal FA genes will have a child who develops symptoms. And there’s a 25% chance that parents who carry abnormal FA genes won’t pass those abnormal genes on to their child.
Most of the time, healthcare providers diagnose Fanconi anemia while investigating or treating related conditions, including cancer, progressive bone marrow failure or physical abnormalities.
As a result, healthcare providers typically diagnose the conditions that FA causes and then diagnose FA. Tests healthcare providers may use to diagnose blood disorders, blood cancers and solid tumors include:
Once your healthcare provider diagnoses the condition, they then determine if FA caused it.
Some genetic tests healthcare providers may use include:
Healthcare providers may test for FA using two common prenatal tests:
Typically, healthcare providers focus on treatments to manage blood disorders that FA causes, including:
Fanconi anemia is an inherited disorder. That means you can’t reduce your risk of developing FA. That said, if you have a family history of FA, you may want genetic testing to find out if you’re carrying FA. Not everyone who carries FA develops medical conditions. Likewise, not all people who carry FA pass it on to their children. Genetic testing will help you to understand your situation.
FA affects people in different ways. If you have FA, your healthcare provider is your best resource for information about your prognosis.
If you have Fanconi anemia, you’ll need to monitor your overall health and let your healthcare provider know if you notice changes in your body that may be signs of FA symptoms. Here are some examples:
Yes. Fanconi anemia can affect all parts of your body. While blood marrow transplants have cured FA blood disorders, people with FA are still more likely to develop cancer. Talk to your healthcare provider about steps you can take to protect your health.
A note from Cleveland Clinic
Fanconi anemia (FA) is a rare inherited disorder. People who have FA may have serious blood disorders. They’re also more likely to develop certain cancers. FA can cause significant physical differences that can affect peoples’ appearances and development as well. Healthcare providers can treat some of the medical conditions FA causes. Not everyone who has FA develops similar medical conditions. Many times, FA is like a chronic condition with different symptoms that may surface at any time. If you or your child has FA, ask your healthcare provider how FA might affect your life and what you can expect. Knowing what might happen next could help you feel better prepared to manage FA’s challenges.
Last reviewed by a Cleveland Clinic medical professional on 04/15/2022.
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