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Genetics/Birth Defects as related to Alpha-1 Antitrypsin Deficiency


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AAT; alpha-1 proteinase inhibitor; alpha-1 related emphysema; genetic emphysema; hereditary pulmonary emphysema; inherit... 

Alpha-1 is an inherited disorder that may result in you developing a serious lung/ liver disease and passing the defective AAT gene onto your children. An estimated 100,000 people in the U.S. and a similar number in Europe are estimated to have the severe deficiency. In normal individuals large amounts of alpha-1 antitrypsin (AAT) is made in the liver and released into the blood. In AAT deficient individuals, the AAT made in the liver cannot be fully released into the blood.


Genetics/Birth Defects as related to Alpha-1 Antitrypsin Deficiency


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October 8, 2008


Page Updated: June 12, 2007
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