Should I be Tested

Should I be Tested


Alpha-1 Antitrypsin Deficiency, also known as Alpha-1, is a disorder passed on by a person’s parents, which results in low levels or no levels of a protein in the blood. This protein is called Alpha-1 Antitrypsin (AAT). If you have Alpha-1, you may get a severe lung and/or liver disease or pass the flawed AAT gene on to your children. In people lacking the AAT protein, the AAT made in the liver cannot be fully released into the blood.

What are some important facts about Alpha-1?


  • is a disorder of the genes that leads to low or no levels of AAT
  • may cause lung disease in adults
  • may cause liver damage that gets worse over time in adults, children and infants
  • often goes undetected for years
  • can be treated, but cannot be cured
  • is easy to find through a blood test

How is Alpha-1 Inherited?

One-half of your genes are passed on from each parent. Here is an example of what could happen if both parents are carriers of the gene.


Risks Associated with Common Genetic Variants

Normal (MM): Does not have the disorder and does not carry any altered genes.

Carrier (MS): It is unclear whether there is a risk for getting disease symptoms and does carry an altered AAT gene (most studies do not show an increased risk for disease).

Alpha-1 (SZ or ZZ): Moderate (SZ) to severe (ZZ) deficiency. Could get disease and does carry two altered AAT genes.

Alpha-1 (SS): It is unclear whether there is a risk for getting disease symptoms but does carry two altered AAT genes (most studies do not show an increased risk for disease).

What are the Signs Suggesting Alpha-1?

  1. A family history of Alpha-1, or lung or liver disease
  2. Symptoms
    1. Shortness of breath at rest or with exercise
    2. Wheezing
    3. Coughing
    4. Repeated lung infections
    5. Sputum (or phlegm) production
    6. History of suspected allergies and/or asthma


  1. Any of these medical problems:
    1. Chronic Obstructive Pulmonary Disease
    2. Emphysema
    3. Bronchiectasis
    4. Chronic Bronchitis
    5. Asthma
    6. Chronic liver disease in adults
    7. The skin disease panniculitis
    8. Unexplained liver disease in infants and children

It is important to note that people with Alpha-1 may not show any signs of the disorder for many years. This does not mean that you will not have symptoms in the future.

What is Involved in Testing for Alpha-1?

Testing for Alpha-1 is simple, quick and highly accurate. Your blood sample can be collected using a finger stick method of blood collection or by means of a blood draw.

Three types of tests may be conducted on your blood sample:

  • Alpha-1 genotyping examines your genes and determines your genotype.
  • Alpha-1 Antitrypsin PI type of phenotype test determines the trpe of AAT protein that you have.
  • Alpha-1 antitrypsin level test determines the amount of AAT in your blood.

Testing Programs
You or your healthcare provider may obtain an Alpha-1 Test Kit (finger stick) from the Alpha-1 Research Registry by calling toll-free (877) 886-2383. You can perform the test yourself and submit the sample directly to the Registry at the Medical University of South Carolina. This testing screens your blood for the most common genotypes. If more extensive testing is needed to determine your Alpha-1 level and your phenotype, your physician will be notified. There is no charge for the Alpha-1 Screening Program.

Commercial Laboratory
Your physician may decide to draw blood and send it to a commercial laboratory for analysis. The cost of the test varies and must be paid by you or your insurance company.

Who Should Consider Being Tested?
If you have signs that suggest Alpha-1 (family history of Alpha-1, specific symptoms or any of the identified medical problems) you should consider being tested.

There are ways your life could be affected by learning information that may be discovered by genetic testing.

Potential Benefits

  • Allow you to increase your knowledge of Alpha-1 and awareness of your personal risk
  • Provide information for future healthcare decisions
  • Allow you to take steps that may slow the progression of Alpha-1 Association Assist you and your family in making decisions about work, lifestyle, and having children

Potential Harms

  • May be personally unsettling
  • May affect your ability to get health and life insurance
  • May influence willingness of employers to hire you
  • May create stress in your family
  • May increase your personal healthcare costs

These tests are up to you. You should discuss health and non-health risks with your healthcare provider, family, and others close to you. You need to understand the potential benefits and harms very well prior to testing. This is called informed consent.

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