Fanconi Anemia

Also known as Fanconi’s anemia, FA
Fanconi anemia is a rare but serious blood disorder that prevents your bone marrow from making enough new blood cells for your body to work normally. It can also cause your bone marrow, the sponge-like tissue inside your bones, to make abnormal blood cells.
Overview

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.

Visit Fanconi anemia for more information about this topic.

Research for Your Health

The NHLBI is part of the U.S. Department of Health and Human Services’ National Institutes of Health (NIH)—the Nation’s biomedical research agency that makes important scientific discovery to improve health and save lives. We are committed to advancing science and translating discoveries into clinical practice to promote the prevention and treatment of heart, lung, blood, and sleep disorders including Fanconi anemia. Learn about the current and future NHLBI efforts to improve health through research and scientific discovery.

Improving health with current research
- Fanconi Anemia

Learn about the following ways the NHLBI continues to translate current research into improved health for people who have Fanconi anemia. Research on this topic is part of the NHLBI’s broader commitment to advancing blood disorders and blood safety scientific discovery.

  • Program Helps Protect Blood Transfusion Recipients. The NHLBI’s Recipient Epidemiology and Donor Evaluation Study (REDS) program began in 1989 to protect the Nation’s blood supply and improve the benefits and reduce the risks of transfusions. Now in its third phase, called REDS-III, the program supports research in the United States and around the world.
  • Providing Access to NHLBI Biologic Specimens and Data. The Biologic Specimen and Data Repository Information Coordinating Center (BioLINCC) centralizes and integrates biospecimens and clinical data that were once stored in separate repositories. Researchers can find and request available resources on BioLINCC’s secure website, which maximizes the value of these resources and advances heart, lung, blood, and sleep research.
  • Supporting Safe Manufacturing of Cell-Based Therapies. NHLBI’s Production Assistance for Cellular Therapies (PACT) program supports translational research on cellular and genetic therapies by increasing the capacity to manufacture cell products that follow current Good Manufacturing Practices (cGMP) regulations. The PACT program is designed to increase the supply and safety of genetically modified cells available for people who have blood disorders such as Fanconi anemia.
  • Network Accelerates Research on Blood and Bone Marrow Transplants. The NHLBI and the National Cancer Institute (NCI) launched the Blood and Marrow Transplant Clinical Trials Network (BMT CTN) in 2001 to promote large multi-institutional clinical trials that seek to understand the best possible treatment approaches in blood and marrow transplantation. In the United States, about 20,000 patients receive blood or marrow transplants annually
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Learn about some of the pioneering research contributions we have made over the years that have improved clinical care.

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    Advancing research for improved health
    - Fanconi Anemia

    In support of our mission, we are committed to advancing Fanconi anemia research, in part through the following ways.

    Learn about exciting research areas the NHLBI is exploring about Fanconi anemia.

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    Participate in NHLBI Clinical Trials

    We lead or sponsor many studies relevant to Fanconi anemia. See if you or someone you know is eligible to participate in our clinical trials.

    Trials at the NIH Clinical Center

    Blood disorder research

    This study is collecting medical information from health exams and routine tests and procedures to see whether participants may be able to enroll in other studies on blood disorders. Participants in this study must be at least 8 years, with or without a blood disorder. This study is located in Bethesda, Maryland.

    To learn more about clinical trials at the NIH Clinical Center or to talk to someone about a study that might fit your needs, call the Office of Patient Recruitment 800-411-1222.

    Are you considering a blood stem cell transplant?

    This study is investigating a new method for collecting blood stem cells from donors to see if it reduces transplant complications, such as rejection, in patients who have blood diseases. To participate in this study, you must have a well-matched donor; you and your donor must be between 4 and 80 years old; and you must not be a candidate for immunosuppressive therapy. This study is located in Bethesda, Maryland.

    Do you or your child have Fanconi anemia with low blood cell counts?

    This study will look at a newer medicine, eltrombopag, to treat anemia and low blood cell counts in patients who have Fanconi anemia. The FDA approved eltrombopag for severe aplastic anemia. Participants in this study must be 4 years or older. This study is located in Bethesda, Maryland.

    Do you or your child require care for a blood disorder?

    This study provides training for NHLBI blood doctors in the evaluation and care of patients who have blood disorders. Participants in this study must be 2 years or older. This study is located in Bethesda, Maryland.

    Have you received a stem cell transplant?

    This study aims to monitor the long-term health of patients who have received a donor stem cell transplant from the NIH Clinical Center. To participate in this study, you must be between 10 and 80 years old and had your transplant more than 3 years ago. This study is located in Bethesda, Maryland.

    Are you scheduled for a stem cell transplant with cord blood?

    This study will assess the safety and effectiveness of certain cord blood transplants. The study will help researchers learn the best methods for collecting, storing, and using cord blood in transplants. To participate in this study, you must have a disorder that compromises your body’s ability to make blood cells. This study is located in Bethesda, Maryland.

    Learn more about participating in a clinical trial.

    View all trials from ClinicalTrials.gov.

    More Information

    After reading our Fanconi Anemia Health Topic, you may be interested in additional information found in the following resources.

    Anemia
    Aplastic Anemia
    Blood and Bone Marrow Transplant
    Blood Tests
    Blood Transfusion
    Bone Marrow Tests
    Congenital Heart Defects

    Our Publications

    Explore all of the NHLBI’s publications and resources.

    NHLBI resources
    - Fanconi Anemia

    Non-NHLBI resources
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