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

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.

PROLASTIN®-C (alpha1-proteinase inhibitor [human]) is indicated for chronic augmentation and maintenance therapy in adults with clinical evidence of emphysema due to severe hereditary deficiency of alpha1-PI (alpha1-antitrypsin deficiency).

The effect of augmentation therapy with any alpha1-proteinase inhibitor (alpha1-PI), including PROLASTIN-C, on pulmonary exacerbations and on the progression of emphysema in alpha1-antitrypsin deficiency has not been conclusively demonstrated in randomized, controlled clinical trials. Clinical data demonstrating the long-term effects of chronic augmentation or maintenance therapy with PROLASTIN-C are not available.

PROLASTIN-C is not indicated as therapy for lung disease in patients in whom severe alpha1-PI deficiency has not been established.

PROLASTIN-C is contraindicated in IgA-deficient patients with antibodies against IgA due to the risk of severe hypersensitivity and in patients with a history of anaphylaxis or other severe systemic reactions to alpha1-PI.

Hypersensitivity reactions, including anaphylaxis, may occur. Monitor vital signs and observe the patient carefully throughout the infusion. Should hypersensitivity symptoms be observed, promptly stop infusion and begin appropriate therapy. Have epinephrine and other appropriate therapy available for the treatment of any acute anaphylactic or anaphylactoid reaction.

PROLASTIN-C may contain trace amounts of IgA. Patients with known antibodies to IgA, which can be present in patients with selective or severe IgA deficiency, have a greater risk of developing potentially severe hypersensitivity and anaphylactic reactions.

The most common drug-related adverse reaction observed at a rate of >5% in subjects receiving PROLASTIN-C was upper respiratory tract infection. The most serious adverse reaction observed during clinical trials with PROLASTIN-C was an abdominal and extremity rash in 1 subject.

Because PROLASTIN-C is made from human plasma, it may carry a risk of transmitting infectious agents, eg, viruses, the variant Creutzfeldt-Jakob disease (vCJD) agent, and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent. This also applies to unknown or emerging viruses and other pathogens.

Please click here for full Prescribing Information for PROLASTIN-C.


  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. ?1-Antitrypsin deficiency. The Merck Manuals Online Medical Library. Accessed July 6, 2008.