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Fanconi's anemia

  • Alternative Names

    Anemia - Fanconi's


    Symptoms

    Person's with Fanconi's anemia have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot).

    Not enough white blood cells can lead to infections. A lack of red blood cells may result in fatigue (anemia).

    A lower-than-normal amount of platelets may lead to excess bleeding.

    Most people with Fanconi's anemia have some of these symptoms:

    • Abnormal heart, lungs, and digestive tract
    • Bone problems (especially the hips, spine or ribs, can causes a curved spine (scoliosis)
    • Changes in the color of the skin, such as:
      • Darkened areas of the skin called Cafe au lait spots
      • Vitiligo
    • Deafness due to abnormal ears
    • Eye or eyelid problems
    • Kidney(s) that did not form correctly
    • Problems with the arms and hands, such as:
      • Missing, extra or misshapen thumbs
      • Problems of the hands and the bone in the lower arm
      • Small or missing bone in the forearm
    • Short height
    • Small head
    • Small testicles and genital changes

    Other possible symptoms:

    • Failure to thrive
    • Learning disability
    • Low birth weight
    • Mental retardation

    Signs and tests

    Common tests for Fanconi's anemia include:

    • Bone marrow biopsy
    • Complete blood count (CBC)
    • Developmental tests
    • Drugs added to a blood sample to check for damage to chromosomes
    • Hand x-ray and other imaging studies (CT scan, MRI)
    • Hearing test
    • HLA tissue typing (to find matching bone-marrow donors)
    • Ultrasound of the kidneys

    Pregnant women may haveamniocentesis or chorionic villous sampling to diagnose the condition in their unborn child.