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What is Fanconi Anemia?
Fanconi Anemia (FA) is a rare inherited bone marrow failure syndrome. When bone marrow
fails, it cannot produce all of the white blood cells, red blood cells, and platelets that the body needs. Therefore,
people born with FA usually have physical defects and learning disabilities.
Heredity
FA is an autosomal recessive trait. That means that if both parents carry a defect in the gene,
their children have a 25 % chance of getting it. FA is not more common in certain ethnic groups or a particular sex. It is
found in males and females, with a ratio of about 1.2:1 (males to females).
Effects
FA usually gives the patient physical disabilities and acute myelogenous leukemia (AML) at an early stage. Patients have a lack of white blood cells and platelets, causing excessive bleeding,
which then leads to fatigue. The visible symptoms are abnormalities like extra or missing limbs, stunted growth, misshapen
body parts, or skin pigment changes. Other symptoms are mental retardation, low birth weight, and learning disabilities. FA
can lead to cancer, so FA patients must undergo tests regularly to check for cancer. FA is fatal, but not always immediately.
It is like cancer; it will kill you, but it might wait a while.
Cures and Treatments
The only cure is a bone marrow transplant, usually from a sibling or close family member. Other transplants
can come from umbilical cords or bone marrow from a completely unrelated person. Even though this transplant can cure FA,
cancer could have already developed. Therefore, you can't be sure that you're completely cured of the effects.
There are also successful treatments. One treatment is hormone therapy, using low doses of steroids.
Transfusions and antibiotics can treat symptoms, but not the actual disease itself. Other treatments of symptoms include
gene therapy, synthetic growth factors, and androgen therapy.
Tests
The only way to detect FA before the symptoms appear is to do tests. Some tests include:
- complete blood count
- bone marrow biopsy
- HLA tissue typing
- ultrasound of the kidneys
- amniocentesis (during pregnancy)
- chromosome breakage test
- and many more.
There is no way to detect whether someone is a carrier of FA except to look at their family tree.
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