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Family testing for Alpha-1

Because Alpha-1 is a genetic condition, it can be passed down from generation to generation. That means a family with one member diagnosed with Alpha-1 could have other members with Alpha-1 or members who are carriers of an abnormal gene for AAT.

The best way to find out who has severe Alpha-1 and who is a carrier of an abnormal gene for AAT, is to have family testing for Alpha-1, as recommended by the American Thoracic Society and by the European Respiratory Society. See full testing recommendations.1

Allele Algorithm

Alpha-1 occurs when a person inherits one abnormal gene from each of his/her parents.

  1. If one of the parents has two abnormal genes (i.e., is an Alpha or a Pi ZZ type), then the child has a 100% chance of being a carrier.
  2. If each parent has only one abnormal gene (i.e., is an Alpha carrier), then the child has a 50% chance of being a carrier, a 25% chance of being an Alpha, and a 25% chance of having two normal alleles.

Why test family members for Alpha-1?

If you are diagnosed with Alpha-1, it’s important to know about your treatment options, lifestyle changes you can make, and your increased risk for lung disease. The lifestyle changes you make can have an impact on your family. If you need to reduce your exposure to second-hand smoke, for example, members of your family may need to quit or smoke elsewhere to accommodate your needs.

If a family member is diagnosed as a carrier of an abnormal gene for Alpha-1, it’s an important factor in planning a family. Perhaps more vital is the increased risk of lung disease that carriers face, which varies by the phenotype of the carrier.2,3

Discuss the advantages and disadvantages of testing with your doctor.

Testing for Alpha-1 is important

Successful management of Alpha-1 may help slow lung disease. Knowing if you have the condition is the first step. Getting tested for Alpha-1 is easy. It is diagnosed with simple blood tests.

Find out about a free Grifols AlphaKit you can get and take to your doctor.

A Guide for the Recently Diagnosed

AlphaNet Patient Guides

What Does It Mean To Be an Alpha-1 Carrier?

next: What To Do If You’re an Alpha-1 Carrier >

Important Safety Information

Prolastin-C, Alpha1-Proteinase Inhibitor (Human) is for adults who have emphysema caused by inherited alpha1-antitrypsin deficiency. The effect of therapy with any alpha1-proteinase inhibitor (alpha1-PI) on pulmonary exacerbations and on the progression of emphysema in alpha1-antitrypsin deficiency has not been demonstrated in randomized, controlled clinical trials. PROLASTIN-C is not indicated as therapy for lung disease in patients in whom severe Alpha1-PI deficiency has not been established.

Prolastin-C may contain trace amounts of IgA. IgA deficient patients with antibodies against IgA should not receive Prolastin-C due to the risk of hypersensitivity.

The most common side effects during clinical trials with Prolastin-C were chills, a general feeling of being unwell, headache, rash, hot flush, and itching.

Prolastin-C is made from human plasma. Products made from human plasma may carry a risk of transmitting infectious agents, e.g., viruses, and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent.

Please see accompanying Prolastin-C Full Prescribing Information for complete prescribing details.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch or call 1-800-FDA-1088.

References
  1. American Thoracic Society/European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.
  2. University of Florida College of Medicine AAT Deficiency Detection Laboratory.
  3. Wise RA. α1-Antitrypsin deficiency. The Merck Manuals Online Medical Library. http://www.merck.com/mmpe/sec05/ch049/ch049b.html#CIHFAGBJ. Accessed July 6, 2008.