Fanconi Anemia

Fanconi anemia (FA) is a blood disorder that causes every cell in the body to be vulnerable to DNA damage, leading to the death of vital cells or contributing to their transformation into cancers.

Every day, stress, toxins, and environmental factors damage our DNA. Our bodies are normally programmed to constantly find and repair damaged DNA. Yet in this rare genetic disorder, the genes responsible for this task do not work correctly. Instead, damaged DNA remains and can cause problems in blood and bone marrow by harming stem cells—the source of all cells. When too much damage occurs, bone marrow can fail or turn into leukemia, requiring a stem cell transplant.

Fanconi anemia affects 1 in 131,000 people in the United States. Birth defects may be some of the first signs and symptoms of FA, but in other patients the first signs can be nosebleeds, bleeding gums, bruising easily, feeling tired, or getting infections easily. Specific cell breakage studies are needed to confirm its diagnosis, with subsequent genetic testing to determine the FA subtype.

Fanconi anemia also leaves the body vulnerable to cancer—especially blood cancers, but also other tumors, necessitating close monitoring. Although it’s unclear why, FA can be mild to severe, with some children becoming teenagers before they are diagnosed.

Stanford Medicine Children’s Health has developed innovative stem cell transplants and groundbreaking research-inspired treatments for FA that can help your child survive and thrive.

Why Stanford Medicine Children’s Health for Fanconi anemia

• Our team of care providers are the top doctors in the nation and world for FA; we handpicked them for their complementary expertise and innovative approaches to treating FA. For example, Agnieszka Czechowicz, MD, PhD, is leading a clinical trial that aims to use gene therapy to maintain the blood and immune system in children with FA.
• We are a true center of excellence for Fanconi anemia and the top FA treatment center in the West, offering multidisciplinary care and treating children and adults of all ages from California, the nation, and the world.
• Our FA program is housed in our Bass Center for Childhood Cancer and Blood Diseases, which is nationally known for its innovative research on cancer and cell and gene therapy. We have a dedicated Center for Definitive and Curative Medicine, aimed at accelerating the research-to-treatment process and bringing life-changing therapies for patients, including new hope of cures for FA.

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