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  Fanconi Anemia  
 
 
 
 INFORMATION:

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:
  • Skin pigment change (darkened areas of the skin, cafe-au-lait spots, vitiligo)
  • Short height
  • 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)
  • Small testicles, genital changes
  • Abnormal bones (abnormalities of the hip, spine or rib; curved spine (scoliosis); small head)
  • Abnormal eye/eyelid
  • Malformed kidney
  • Abnormal ears/deafness
  • Abnormal hip, leg, and toe
  • Abnormal digestive tract/heart and lungs
Source: U.S. National Library of Medicine

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