Fanconi Anemia Facts

Fanconi anemia is an extremely rare blood disorder that causes the bone marrow to stop producing blood cells . In the United States 1 out of every 300 people is a carrier of the disease, however just 1 in every 360,000 people are born Fanconi Anemia

The blood cells that are produced can be abnormal and this can lead to the development of other health problems, one of which is cancer. Fanconi Anemia can also affect other parts of the body and children born with Fanconi Anemia often have birth defects such as Bone or skeleton defects. Eye and ear defects. Skin discoloration, Kidney problems or Congenital heart defects. Symptoms include low birth weight, poor appetite, slower growth rate, lower than normal height, small head size and/or mental retardation or learning disabilities. Genetic testing will need to be done to get a firm diagnosis.

Fanconi anemia is an inherited, not an acquired disease. In order to inherit Fanconi anemia, the same abnormal gene has to be passed down from both parents and researchers have been able to identify a total of 11 different genes that can cause Fanconi anemia. If the child inherits just one defective gene, he or she will not develop Fanconi anemia, but will be a carrier of the disease and can pass it down to the next generation. If both parents have a defective gene, the baby will have a 25% chance of having Fanconi anemia and a 505 chance of being a carrier. If just one parent has the gene there is still a 50% chance that the baby will be a carrier.

Fanconi Anemia is not to be confused with Fanconi Syndrome, which is a condition that affects the kidneys. They are two separate and distinct conditions.

The function of the bone marrow is to make three types of blood cells. The red blood cells that perform two functions. The first one is to carry oxygen to the different cells of the body and the second one is remove carbon dioxide. The white blood cells, which fight off infections and platelets, which are the clotting factor in blood. Blood cells do not last forever, they die off and need to be replaced.

A person has anemia, and there are many different types of anemia, when the amount of red blood cells is lower than normal. Fanconi Anemia is a type of aplastic anemia, meaning that it fails to produce all three types of blood cells.

Roughly 10% of patients with Fanconi Anemia will develop some form of blood cancer. Those who survive to adulthood have a high risk of developing solid cancer tumors and the longer the patient lives, the greater the risk.

The life expectancy for a patient with Fanconi Anemia is between 20 and 30 years of age and the actual cause of death in most cases is bone marrow failure, leukemia or solid tumors.

Bone marrow transplants have made a difference, however the patient will still have greater risk of developing some form of cancer.Androgen Therapy can make more red blood cells and platelets, but cannot help produce white blood cells.
Synthetic Growth Factors can help make both red and white blood cells and research is being conducted on how effective they are in producing platelets. Research is on going to find a way to replace the defective gene itself.

Fanconi anemia is found in both men and women and in all ethnic groups, however two groups have an increased chance of either being a carrier of Fanconi Anemia or actually having the disease. With Ashkenazi Jews- those of Eastern European ancestry in the United States 1 out of 90 is a carrier and 1 out of 30,000 has Fanconi Anemia. The Afrikaners in South Africa have a carrier rate of 1 in 77 and 1 out of 22,000 has the disease.

Sources: National Lung and Blood Institute
Fanconi Anemia research Fund