Key Points

• Fanconi anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure.
• FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many abnormal blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer).
• FA is a blood disorder, but it also can affect many of your body's organs, tissues, and systems. People who have 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 blood cells, white blood cells, and platelets.
• FA is an inherited disease. It's passed from parents to children through the genes. At least 13 faulty genes are associated with FA. FA develops when both parents pass the same faulty FA gene to their child.
• 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.
• Your doctor may suspect you or your child has FA if you have signs and symptoms of anemia, bone marrow failure, birth defects, or developmental or eating problems.
• Medical and family histories are an important part of diagnosing FA. A diagnosis of FA is confirmed through genetic tests, including chromosome breakage testing, cytometric flow analysis, and mutation screening.
• Doctors decide how to treat FA based on a person's age and how well or how poorly the person's bone marrow is making new blood cells.
• Short-term treatment for FA may include ongoing monitoring, antibiotics (to help fight infections if your blood counts drop), and blood transfusions. The four main types of long-term treatment for FA are blood and marrow stem cells transplant, androgen therapy, synthetic growth factors, and gene therapy.
• Children who have FA may need surgery to improve the use of thumbs, arms, hips, legs, and other parts of the body that aren't formed right because of birth defects caused by FA. Surgery also may be needed to correct heart defects or problems in the digestive and breathing systems.
• Having FA is an emotionally difficult issue for people who have the disorder and their families. Individual or family counseling may give you and other relatives important support, comfort, and advice that will help you deal with the problems that FA can cause.
• FA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia (a type of blood cancer), and solid tumors.
• New medical advances have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. Other new treatments also are being developed that hold promise.