Your doctor may suspect you or your child has Fanconi anemia (FA) if you have signs and symptoms of:
FA is an inherited disorder—that is, it's passed from parents to children through genes. If a child has FA, his or her brothers and sisters also should be tested for the disorder.
The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't have enough red blood cells to carry oxygen to its various parts. If you have anemia, you may not have the energy to do normal activities.
A low red blood cell count also can cause shortness of breath, dizziness, headaches, coldness in your hands and feet, pale skin, and chest pain.
When your bone marrow fails, it can't make enough red blood cells, white blood cells, and platelets. This can cause many problems that have various signs and symptoms.
With too few red blood cells, you can develop anemia. In FA, the size of your red blood cells also can be much larger than normal. This makes it harder for the cells to work well.
With too few white blood cells, you're at risk for infections. Infections also may last longer and be more serious than normal.
With too few platelets, you may bleed and bruise easily, suffer from internal bleeding, or have petechiae (pe-TEE-kee-ay). Petechiae are tiny red or purple spots on the skin. Bleeding in small blood vessels just below your skin causes these spots.
In some people who have FA, the bone marrow makes a lot of harmful, immature white blood cells called blasts. Blasts don't work like normal blood cells. As they build up, they prevent the bone marrow from making enough normal blood cells.
A large number of blasts in the bone marrow can lead to a type of blood cancer called acute myeloid leukemia (AML).
Many birth defects can be signs of FA. These include:
Other signs and symptoms of FA are related to physical and mental development. They include:
Some signs and symptoms of FA may develop as you or your child gets older. Women who have FA may have some or all of the following:
Men who have FA may have sex organs that are less developed than normal. They also may be less fertile than men who don't have the disease.
Clinical trials are research studies that explore whether a medical strategy, treatment, or device is safe and effective for humans. To find clinical trials that are currently underway for Fanconi Anemia, visit www.clinicaltrials.gov.
Visit Children and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical research.
December 9, 2013
Gary H. Gibbons
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