Key Points

• Fanconi anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure.
• FA causes your bone marrow to stop making enough new blood cells for your body to work normally. It also can cause your bone marrow to make many abnormal blood cells.
• Although FA is a blood disease, it can affect many of your body's organs, tissues, and systems. People with FA are at higher risk for certain cancers, birth defects, and other serious health problems.
• FA is a type of aplastic anemia. In aplastic anemia, your bone marrow slows down or stops making all three types of blood cells: red and white blood cells and platelets.
• FA is an inherited disease. It's passed from parents to children through their genes. If a child receives the same defective gene linked to FA from both parents, the child will have FA.
• FA occurs in all racial and ethnic groups and affects men and women equally. Two ethnic groups—Ashkenazi Jews and Afrikaners—are more likely than other groups to have FA.
• Signs and symptoms of FA often are present at birth in the form of birth defects. Children born with FA, but without birth defects, tend to develop symptoms early. These include fatigue (tiredness) caused by anemia, illnesses linked to bone marrow failure, and physical and mental development problems.
• Family history is important for diagnosing FA. A diagnosis of FA is confirmed through genetic tests, including chromosome breakage testing, cytometric flow analysis, and mutation screening.
• Bone marrow transplant is the most effective treatment for FA, especially if the donor is a brother or sister with matching bone marrow cells. Other treatments include androgen therapy and synthetic growth factors that increase blood counts, but can't reverse bone marrow failure.
• Children with FA may need surgery to improve the use of thumbs, arms, hips, legs, and other parts of the body that are malformed or underdeveloped due to birth defects caused by the disease. Surgery also may be needed to correct heart defects or problems in the digestive and breathing systems.
• FA is an unpredictable disease. The most common causes of death in people who have FA are bone marrow failure, leukemia (a type of blood cancer), and cancerous solid tumors. The average life expectancy for people with FA is between 20 and 30 years.