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Congenital anomalies in diamond Blackfan anemia (DBA)
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5/19/11
[PDF-4.89 MB]
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Description:A congenital anomaly is a structural abnormality or defect that is present at birth. Such abnormalities commonly are called “birth defects”. A congenital anomaly—or birth defect—can affect any part of the body and can affect the body in different ways. Some congenital anomalies affect the way a person looks, while others affect the way a part of the body works.
Currently, approximately 40% of people with DBA have a mutation (alteration) in one of seven genes. All of these genes code for the cell structures which help make body proteins. Additional genetic causes of DBA will likely be identified in the future. Exactly how these mutations are related to congenital anomalies is not known. Research has shown that some congenital anomalies are more common in individuals with particular mutations. Variations in symptoms and anomalies may be due to other yet to be discovered genetic factors or environmental factors.
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Pages in Document:8 unnumbered pages
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