DNA Direct: Your Genes in Context
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Testing for Genetic Disorders
ALPHA-1 ANTITRYPSIN DEFICIENCY
Fast Facts: Alpha-1 Antitrypsin Deficiency
- Alpha-1 patients are most often misdiagnosed as having asthma.
- Alpha-1 is one of the most common genetic disorders worldwide.
- It is often misdiagnosed since the symptoms are common in the general population.
- Around 1 in every 10 to 33 Americans are Alpha-1 carriers.
- An estimated 100,000 people in the U.S. and a similar number in Europe have severe Alpha-1 antitrypsin deficiency.
- Alpha-1 is the leading genetic cause of liver disease in infants and children.
- Most Alpha-1 carriers have, on average, 60% of the normal level of the AAT protein and usually do not develop lung or liver disease.
- While carriers are usually asymptomatic, there is some evidence that carriers may be at a slightly increased risk for injury to the lungs, especially if they smoke, and to the liver. So preventive action can be important for these people.
- Approximately 1 in 2500 to 1 in 4000 Americans have severe Alpha-1.
- Alpha-1 is responsible for approximately 3 percent of all cases of emphysema (chronic obstructive pulmonary diseases) in the U.S.
- The underlying diagnosis of Alpha-1 has been shown to take an average of seven years and three doctors.
A HUMAN TOUCH
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