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What is Alpha-1?
Alpha-1, also known as
Alpha-1 Antitrypsin Deficiency, is a disorder passed on by a persons
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?
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
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. Refer to the figure below to see what could
happen for children if both parents are carriers (have one normal and one
altered AAT gene). Please note that this figure shows the most common
normal and flawed genes.
Associated with Common Genetic Variants
Normal (MM) Does not have the disorder and does not carry any altered AAT
Carrier (MZ) Mild to moderate AAT Deficiency - may get disease symptoms
and does carry an altered AAT gene.
Carrier (MS) It is unclear whether there is a risk for getting disease
symptoms but does carry an altered AAT gene (most studies do not show an
increased risk for disease).
Alpha-1 Moderate (SZ) to severe (ZZ) deficiency - could get (SZ) or (ZZ)
disease and does carry two altered AAT genes.
(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
Shortness of breath at
rest or with exercise
Sputum (or phlegm)
History of suspected
allergies and/or asthma
3. Any of these medical problems:
Pulmonary Disease (COPD)
Chronic liver disease
The skin disease
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
of tests may be conducted on your blood sample
genotyping examines your genes and determines your genotype.
Alpha-1 antitrypsin PI type or phenotype test determines the type of AAT
protein that you have.
Alpha-1 antitrypsin level test determines the amount of AAT in your
Alpha-1 Screening and Detection Program
You or your
health care provider may obtain an Alpha-1 Test Kit (finger stick) from
the Alpha-1 Foundation by calling toll free 1-877-228-7321 ext. 217. Your
health care provider will perform the test and submit the sample to the
Alpha-1 Genetics Laboratory at the University of Florida. Results are
returned to your health care provider within 2-4 weeks. 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.
Alpha-1 Coded Testing
choose to be in a private testing program called the Alpha-1 Coded Testing
(ACT) Study. You may obtain an Alpha-1 Test Kit (finger stick) by calling
the Medical University of South Carolina toll free at 1-877-886-2383.
the test and the results are returned to you in 4-6 weeks. This study also
screens for the most common genotypes. A counselor is available to discuss
the results with you. There is no cost to you or your insurance for this
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
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.
Allow you to increase your knowledge of Alpha-1
and awareness of your personal risk
Provide information for future health care
Allow you to take steps that may slow the
progression of Alpha-1
Assist you and your family in making decisions
about work, lifestyle and having children
May be personally unsettling
May affect your ability to get health and life
May influence willingness of employers to hire
May create stress in your family
May increase your personal health care costs
are up to you. You should discuss health and non-health risks with your
health care provider, family and others close to you. You need to
understand the potential benefits and harms very well before testing.
This is called informed consent.
What Should I Do With the Results?
If your test results are
your primary health care provider. Ask them about:
Interpretation of your test results
How the results will affect your health condition
The impact of the Alpha-1 on your current health state
Your options for treatment
Stop smoking and avoid secondhand tobacco smoke as much as you can.
Avoid being around dusts and fumes.
Think about your health behavior (i.e. washing your hands, reducing
contact with persons who
have respiratory infections).
Decide whom you should inform in your family and if they should think
about being tested.
Create an exercise program (under medical supervision).
Create a nutrition program (under medical supervision).
Ask your health care provider for a copy of the brochure Guide to the
Contact the resources listed below for more information.
ways that Alphas (persons with Alpha-1) can protect themselves through
proper health care, eating well, exercise and stress management. Most
importantly, Alphas can protect themselves by not smoking! In many cases,
doing these things can help
to fight off the symptoms of the disorder for many years.
This information is based on the brochure provided by:
See these other articles in our library:
What Every COPD Patient Should Know
About Alpha-1 Antitrypsin Deficiency
An Article by our staff based on
U.S.National Heart, Lung and Blood Institute (NHLB)
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Last modified: July 9, 2003