Fanconi's anemia is disease passed down through families (inherited) that mainly affects the bone marrow. It results in decreased production of all types of blood cells.
Fanconi's anemia is different from Fanconi syndrome, a rare kidney disorder.
Fanconi's anemia is due to an abnormal gene that prevents cells from fixing damaged DNA or removing cell damaging substances called oxygen-free radicals.
To inherit Fanconi's anemia, a person must get one copy of the abnormal gene from each parent.
The condition is usually diagnosed in children between 2 and 15 years old.
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:
Other possible symptoms:
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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Reviewer Info: 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.; ADAM Health Illustrated Encyclopedia, 11/10/2008 |