Genetic testing for alpha-1 antitrypsin deficiency (also known as Alpha-1) tells you whether you have one of the two most common inherited changes – known as Z and S – associated with the condition.

Alpha-1 is a recessive genetic condition, meaning that a person needs to have two altered copies of the Alpha-1 gene to have serious complications. We all have two copies of each gene – one is inherited from our mother and one from our father.

Someone with one copy of Z or S is called a carrier. Carriers typically do not develop signs and symptoms of Alpha-1. However, studies have shown that some carriers, especially smokers, can develop lung damage. People with two altered copies of the gene (ZZ, ZS, or SS) have an increased risk of developing complications related to Alpha-1.

Knowing that you have a genetic change means that you can take steps to improve your own health and the health of your family members.

Genes + Knowledge = Prevention

Knowing your genetic status can help you to:

• Make informed decisions about:
  • health care
  • lifestyle choices
  • family planning
  • job choices
• Take steps to slow the progression of Alpha-1
• Avoid harmful behaviors such as smoking and alcohol consumption
• Modify your exposure to environmental factors such as dust, pollution, and certain chemicals.
• Identify relatives who may also be at-risk for having Alpha-1.
• Get vaccinations for Hepatitis A and B (to prevent liver damage)
• Have regular physical exams and screening tests to look for lung or liver damage
• Start appropriate treatments
• Explain the cause of medical complications previously unknown

Remember, your genes are only one of several factors that affect your health. You can take action to improve your health and the health of your family when you know that you are at increased risk.