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Fanconi anemia (FA) is a rare inherited disease characterized by multiple physical abnormalities, bone marrow failure, and a higher than normal risk of cancer. Researchers have shown that defects (mutations) in one of at least 15 different genes can cause Fanconi anemia. The proteins normally produced by these genes form a kind of cellular “machine” that helps detect and repair damaged DNA in blood stem cells and other cells in the body (a normal, daily occurrence). In Fanconi anemia, that DNA repair is slowed. Therefore, blood stem cells (in the bone marrow) accumulate damaged DNA and do not survive.
Children, teenagers and young adults with Fanconi anemia are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure Program, recognized as one of the nation’s best pediatric treatment and research programs for bone marrow failure and related conditions. Our patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials investigating new treatments. Dana-Farber/Boston Children's is also home to one of the largest and most experienced pediatric stem cell transplant centers in the world. Stem cell (bone marrow) transplant is currently the only cure for the blood defects of Fanconi anemia.
Find more in-depth information on Fanconi anemia on the Dana-Farber/Boston Children's website, including answers to:
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