Fanconi anemia is andisease caused by in certain , known as FA genes. These genes provide instructions to help the body repair certain types of 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 anemia symptoms, such as , shortness of breath, and bruising easily.and 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
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.
Improving health with current research
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
Learn about some of the pioneering research contributions we have made over the years that have improved clinical care.
- NHLBI-supported investigators have worked to improve bone marrow transplants. Some patients who have Fanconi anemia may be at risk for complications following a bone marrow transplant. The NHLBI has supported research to improve outcomes after a transplant for patients who have Fanconi anemia.
- Research found Fanconi anemia may increase the risk for human papillomavirus (HPV) infection. The NHLBI supported research that showed people who have Fanconi anemia are more susceptible to HPV infection, which may explain why people who have Fanconi anemia are at higher risk for certain cancers. These findings helped support clinical recommendations to provide HPV vaccinations to people who have Fanconi anemia.
Advancing research for improved health
In support of our mission, we are committed to advancing Fanconi anemia research, in part through the following ways.
- We perform research. The NHLBI Division of Intramural Research and its Hematology Branch are actively engaged in research on Fanconi anemia. Research in the Hematopoiesis and Bone Marrow Failure Laboratory spans the basic sciences, , and epidemiology, focusing on blood cell production in healthy individuals and patients who have bone marrow failure.
- We fund research. The research we fund today will help improve our future health. Our Division of Blood Diseases and Resources is a leader in research on the causes, prevention, and treatment of blood diseases, including Fanconi anemia. Search the NIH RePORTER to learn about research the NHLBI is funding on Fanconi anemia.
- We stimulate high-impact research. Our Trans-Omics for Precision Medicine (TOPMed) Program includes participants with blood disorders, which may help us understand how genes contribute to differences in disease severity and how patients respond to treatment. The NHLBI Strategic Vision highlights ways we may support research on Fanconi anemia over the next decade.
Learn about exciting research areas the NHLBI is exploring about Fanconi anemia.
- Fanconi anemia genes have multiple roles. We support research to understand newly identified ways Fanconi anemia genes keep cells healthy and why mutations in these genes can lead to cancer.
- Many kinds of gene mutations cause Fanconi anemia. We continue to support work focused on discovering new mutations in the Fanconi anemia genes. These discoveries will improve diagnosis and help us understand how the disease affects a patient’s cells and body.
- New targeted therapies for Fanconi anemia. The NHLBI is supporting projects to identify new treatments for Fanconi anemia, including a five-year international project that is the largest of its kind testing new promising therapies in 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.
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After reading our Fanconi Anemia Health Topic, you may be interested in additional information found in the following resources.
Related Health Topics
- Birth Defects (Eunice Kennedy Shriver National Institute of Child Health and Human Development)
- Fanconi Anemia (National Library of Medicine)
- Inherited Bone Marrow Failure Syndromes (National Cancer Institute)
- Leukemia (National Cancer Institute)
- Myelodysplastic Syndromes (National Cancer Institute)