Advanced Search


Family testing for carriers of 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.

Finding out your Alpha-1 status usually involves blood tests, which indicate whether you are classified as normal (no deficiency), a carrier, or deficient.

The most common test measures the amount of alpha1-antitrypsin protein in the blood. Many clinical laboratories can run this test. Additional blood tests are called phenotyping and genotyping tests.

Alpha-1 genetic testing is mainly done when the amount of AAT in the blood is below normal. These tests pinpoint exactly what type of alpha1-antitrypsin protein the body makes. Only a few specialized labs can run these tests.

There is a free confidential testing program called the Alpha-1 Coded Testing (ACT) Study at the Medical University of South Carolina (MUSC). To have family members tested to determine their status, please call (877) 886-2383 or e-mail inquiries to alphaone@musc.edu.

The best way to find out who else may be a carrier or have Alpha-1 is to do family testing, as recommended by the American Thoracic Society and by the European Respiratory Society. See full testing recommendations.1

Talk to your doctor about the advantages and disadvantages of family testing for Alpha-1.

next: How Smoking Accelerates Lung Function Decline >

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.