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Fanconi's anemia
Alternate Names : Anemia - Fanconi's
Symptoms & Signs
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 these types of 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:
- 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
Diagnosis & Tests
Common tests for Fanconi's anemia include: Pregnant women may haveamniocentesis or chorionic villous sampling to diagnose the condition in their unborn child.
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Review Date : 11/10/2008
Reviewed By : David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and James R. Mason, MD, Oncologist, Director, Blood and Marrow Transplantation Program and Stem Cell Processing Lab, Scripps Clinic, Torrey Pines, California. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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