Fanconi anemia(FA) is a rare genetic disease, affecting 1 in 160,000 people.
These cells are important to good health.
Illustration by Hilary Allison for Verywell Health
What Are Symptoms of Fanconi Anemia?
Illustration by Hilary Allison for Verywell Health
Fanconi anemia(FA) is a rare genetic disorder that causes gradual bone marrow failure.
The most common test for FA is a blood test called achromosomalbreakage test.
This test looks for DNA damage that is characteristic of FA.
This test can be done in utero (before the child is born) if FA is a concern.
They will also order acomplete blood cell count(CBC).
People with this disorder usually inherit a mutated gene from each of their parents.
Most cases of FA are diagnosed before or shortly after birth.
In some cases, symptoms may develop later, usually between the ages of 5 and 10.
Diagnosis usually involves genetic testing and other blood tests.
Imaging studies may also be used.
Treating FA is a lifelong process that requires careful monitor.
Fortunately, treatment options have advanced and many people with FA are able to have a fulfilling life.
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