What Is Alpha-1 Antitrypsin (AAT) Deficiency?

AAT deficiency is a hereditary condition that results in reduced levels of AAT protein in the blood and lungs. This protein, which is made mostly in the liver, helps protect lung tissue from chemicals released by white blood cells.1

People with AAT deficiency have low levels of the AAT protein. Without AAT, people are at higher risk for developing lung diseases such as emphysema. This is why AAT deficiency is often linked with those conditions. But AAT deficiency is different: it's a genetic condition that may pass through the family.2

What If I'm an AAT Deficiency "Carrier"?

If you are a carrier of AAT deficiency, you have one normal AAT gene (labeled "M") and one abnormal AAT deficient gene (the most common deficient gene is labeled "Z"). You may not suffer from any symptoms of lung disease. However, it is important that you still guard against the dangers of smoking since you may be more likely to develop lung disease. Carriers of AAT deficiency may pass the abnormal gene on to their children.2

If You Have AAT Deficiency, Talk With Your Family

AAT deficiency is a hereditary disease, which means it can pass from one generation to the next. Therefore, people with this condition—as well as carriers—should encourage their parents, children, and siblings to be tested for the disorder. After they are tested, it may be important to start making lifestyle changes now to help prevent or delay symptoms of AAT deficiency.

All About AAT - Symptoms and Diagnosis

What Should I Know About Genetic Information Laws?3

With the signing of the Genetic Information Nondiscrimination Act (GINA) into law in 2008*, we’ve hit a new milestone in patients’ rights. Genetic testing can lead to early detection of illness and allow for early treatment of a host of hereditary conditions, but patients have been cautious about how health insurance companies or future employers might use that information. GINA helps reduce those concerns.

* The GINA bill has passed through the U.S. Senate on April 24, 2008 and the U.S. House of Representatives on May 1, 2008. The bill was signed into law by President George W. Bush on May 21, 2008. The health insurance components have taken effect by May 21, 2009, and the employment components have taken effect on November 21, 2009.

More specifically, GINA strictly prohibits the following.

Health insurers may not:

  • Require individuals to provide their genetic information or the genetic information of a family member to the insurer for eligibility, coverage, underwriting, or premium setting decisions.
  • Use genetic information as a preexisting condition.
  • Use genetic information either collected with intent or incidentally to make enrollment or coverage decisions.
  • Only in the rarest of circumstances, request or require that an individual or an individual’s family member undergo a genetic test.

An employer may not:

  • Use genetic information in making decisions regarding hiring, promotion, terms or conditions, privileges of employment, compensation, or termination.
  • Limit, segregate, or classify an employee or member, or deprive that employee or member of employment opportunities, on the basis of genetic information.
  • Request, require, or purchase genetic information of the individual or a family member of the individual, except in rare cases.
  • Fail or refuse to refer an individual for employment on the basis of genetic information, nor may the agency, labor organization, or training program attempt to cause an employer to discriminate against an individual on the basis of genetic information.
  • Use genetic information in making decisions regarding admission to or employment in any program for apprenticeship or training and retraining, including on-the-job training.

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