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When you or your child has a complex, lifelong condition, you’re going to want the best possible care every step of the way.

Fanconi anemia (FA) starts in your bone marrow, but it can affect different organs in your body or even your appearance. It’s a chronic, rare genetic (inherited) condition that can trigger other blood disorders and even some kinds of cancer. No two people with FA have the same symptoms. So, it’s important to get personalized and comprehensive care from specialists familiar with this uncommon diagnosis.

Our team of pediatric and adult care providers knows how to treat and manage this condition. And they work closely together. That means, if it’s your child that’s facing FA, you can be confident that the transition from pediatric to adult care will be easy and comfortable. And if you get a prenatal diagnosis of FA, we’ll be there to counsel your family on what to expect and how to handle the upcoming challenges.

Why Choose Cleveland Clinic for Fanconi Anemia Care?

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High-volume specialty:

Providers nationwide refer their patients with Fanconi anemia to us for treatment. People come from all 50 states and other countries for expert care, including stem-cell and bone marrow transplants.

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Trusted experts:

Our providers help create national recommendations and treatment standards for rare bone marrow failures. Our clinical expertise comes from treating many people with these rare conditions. Meet our team.

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Skilled collaborative providers:

FA affects many parts of your body, so excellent care is needed from experts in many different specialties. At Cleveland Clinic, you’ll get comprehensive, personalized care that matches your unique needs. Your care team may include oncologists, hematologists, cardiologists, geneticists, nephrologists and more.

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Caring approach:

Managing a lifelong condition like Fanconi anemia can be challenging. We’re here to help you stay on top of ongoing treatments, appointments and testing. And if you or your child needs emotional support, we can connect you with our expert counselors and support groups.

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Innovation and research:

We’ve published 450+ publications and have a proven track record of discoveries and innovations. You or your child may also qualify for clinical trials researching new treatments or combinations of treatments for bone marrow failures.

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Virtual visits:

Not feeling great? Rather stay curled up on the couch than leave the house for an appointment? Virtual visits are a convenient way to meet one-on-one with your provider from home, using an internet connection and your smartphone, computer or tablet.

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National recognition:

Cleveland Clinic is a trusted healthcare leader. We're recognized in the U.S. and throughout the world for our expertise and care.

Diagnosing Fanconi Anemia at Cleveland Clinic

Fanconi anemia can affect many different parts of your body, including your physical appearance. About 75% of people with FA are born with conditions like scoliosis, unusually shaped thumbs or no thumbs, smaller or larger heads, light-brown skin patches (sometimes called café-au-lait spots), and are shorter and smaller overall. FA can also cause unusually shaped internal organs that don’t work well. This includes the heart, liver, digestive system and kidneys.

Symptoms vary based on the organ affected. For example, if your bone marrow starts to make fewer red blood cells, then you would develop anemia. You’d feel very tired, be dizzy, look pale, have frequent headaches or struggle to catch your breath.

If your white blood cells start to decrease, then you’ll get a lot of infections. If your platelets get low, then you might bruise easier, have frequent nose bleeds or bleed more than normal if you get a cut.

Symptoms usually start during childhood, between ages 3 and 14. So, often you’re diagnosed with FA by the time you reach adolescence. But, sometimes, you may not have noticeable symptoms and get diagnosed later in life.

Your provider may diagnose FA when they’re ruling out or treating other conditions, like unusual physical features, cancer or bone marrow failures. This means they might first diagnose Ehlers-Danlos syndrome or Marfan syndrome and then diagnose Fanconi anemia.

What to expect at your first visit

Symptoms are the first key to helping our team confirm that you have FA. So, when you come to your first appointment or bring your child in to see us, your provider will want to know what you’re experiencing. They may ask:

  • Do you or your child have symptoms?
  • What are the symptoms?
  • When did the symptoms start?
  • How are they affecting your or your child’s life?

They’ll also do a physical exam to look for any noticeable signs of Fanconi anemia. And they’ll order tests to see if FA is affecting your blood, bones or other organs.

Testing for Fanconi anemia

You or your child may have blood tests, including:

Imaging tests like ultrasound, CT scan (computed tomography scan) and MRI (magnetic resonance imaging) can help us look closely at your bone structure and internal organs. Your provider may also order an echocardiogram (echo) to check your heart structure. Hearing tests or eye exams can show how FA has affected hearing or vision. And your provider may check your bone marrow for abnormal cells using aspiration or biopsy.

Genetic testing and counseling

Since FA is inherited, our team also checks for gene changes (mutations) linked to FA. Our experienced genetic counselors will go over your family history. And they’ll do genetic testing (simple blood tests) for you and your family. A chromosome breakage test is a kind of genetic test that uses chemicals to see how the chromosomes in your blood and skin cells react.

Meet Our Fanconi Anemia Team

Cleveland Clinic’s team-based care means you’ll have experts from different specialties — both pediatric during childhood and adult providers later on — working together to plan your treatment and keep a close eye on your progress. Your care team could include:


Our healthcare providers see patients at convenient locations in Northeast Ohio.

Treating Fanconi Anemia at Cleveland Clinic

Our compassionate providers will go over each treatment option to make sure you get the best results. Treatment depends on how FA affects your or your child’s body.

Treatment for blood conditions

FA can lead to life-threatening blood conditions as it progresses, like aplastic anemia, myelodysplastic syndrome or acute myeloid leukemia (blood cancer).

Our specialists focus on treating these and other related conditions with therapies like:

Surgery for Fanconi anemia

Surgery isn’t the main treatment for FA. But the condition may cause other problems that need surgery. We may use it to correct physical disorders or repair damaged organs.

Living With Fanconi Anemia

Fanconi anemia requires lifelong care and management. This means you’ll need to keep a close eye on your health or your child’s health. It’s important to look for changes, like skin growths and sores (lesions), unexplained bruising or bleeding and constant fatigue. New symptoms can pop up at any time.

That’s also why you or your child will have regular visits and testing with your care team. This lets us quickly start treatment if you or they show new symptoms or signs of complications.

Taking the Next Step

Living with a chronic condition like Fanconi anemia can be a lot to take in and understand. Especially when you’re always on alert for signs of serious, related conditions. Working with experienced and caring healthcare providers can make things easier. We’re here to help you or your child navigate life with FA so you can know what to expect.

Getting an appointment with Cleveland Clinic’s Fanconi anemia experts is easy. We’re here to help you get the care you need.


Getting an appointment with Cleveland Clinic’s Fanconi anemia experts is easy. We’re here to help you get the care you need.

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