What Is Fanconi Anemia?

Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or 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. FA also can cause your bone marrow to make many abnormal blood cells. This can lead to serious health problems such as cancer.

FA is a blood disorder, but it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. People with FA are at higher risk for some cancers and other serious health problems.

FA is different from Fanconi syndrome. Fanconi syndrome affects a person's kidneys. It's a rare and serious condition found mostly in children. Children with Fanconi syndrome pass high amounts of key nutrients and chemicals through their urine, which leads to serious health and developmental problems.

Bone Marrow and Your Blood

Bone marrow is the spongy red tissue inside the large bones of your body. Healthy bone marrow makes three types of blood cells:

• Red blood cells (also called RBCs), which carry oxygen to all parts of your body. They also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled.
• White blood cells (also called WBCs), which help your body fight infections.
• Platelets, which help your blood clot.

Blood cells live for a limited time. Then, they are replaced with new blood cells from your bone marrow. If your bone marrow can't make enough new blood cells to replace the ones that die, you can suffer from serious health problems.

Fanconi Anemia and Your Body

FA is one of many different types of anemia. The term “anemia” is used to describe conditions in which the number of red blood cells in a person's blood is lower than normal.

FA is a type of aplastic anemia. In aplastic anemia, the bone marrow slows down or stops making all three types of blood cells. Low levels of the three blood cell types can harm many of the body's organs, tissues, and systems.

With too few red blood cells, your body's tissues won't receive enough oxygen to work well.

With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse.

With too few platelets, you may suffer from excessive bleeding.

Outlook

If you or your child has FA, you face a greater risk than other people for some cancers. About 10 percent of people with FA develop leukemia, a type of blood cancer.

People with FA who survive to be adults are much more likely than others to develop cancerous solid tumors. The risk for solid tumors increases with age in those who have FA. These tumors can develop in your mouth, tongue, throat, or esophagus (the tube leading from your mouth to your stomach). Women who have FA are at much greater risk than women who don't have the disease for developing tumors in the reproductive organs.

FA is an unpredictable disease. The average life span 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, and solid tumors.

New medical advances have improved the chances of surviving FA. Bone marrow transplant is the major advance in treatment. However, even with a bone marrow transplant, the risk for some cancers is greater in people who have FA.

December 2007