Author: Fanconi Anemia
Email : Fanconi@live.com
Title: Fanconi Anemia
Articles: What is Fanconi anemia?
Fanconi anemia (FA) is one of the inherited anemias that leads to bone marrow failure (aplastic anemia). It is a recessive disorder: if both parents carry a defect (mutation) in the same FA gene, each of their children has a 25% chance of inheriting the defective gene from both parents. When this happens, the child will have FA.
Symptoms of FA:
The lack of white blood cells can lead to infections. Not having enough of the cells in blood (platelets) that cause clotting may lead to excess bleeding. A lack of red blood cells may result in fatigue (anemia).
Most people with Fanconi's anemia have these types of symptoms:
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Skin pigment change (darkened areas of the skin, cafe-au-lait spots, vitiligo)
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Short height
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Upper limb problems (missing, extra or misshapen thumbs; small or missing radius bone in the forearm; problems of the hands and the forearm bone in the lower arm)
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Small testicles, genital changes
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Abnormal bones (abnormalities of the hip, spine or rib; curved spine (scoliosis); small head)
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Abnormal eye/eyelid
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Malformed kidney
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Abnormal ears/deafness
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Abnormal hip, leg, and toe
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Abnormal digestive tract/heart and lungs
Source: U.S. National Library of Medicine
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