Who should be tested?

Testing for Alpha-1 is recommended by the American Thoracic Society for specific groups of patients. Testing for Alpha-1 is easy and can be done in your doctor’s office. Talk to your doctor about the free Talecris AlphaKit.

Learn who should be tested for Alpha-1.

People With Alpha-1 Inherit It From Both Parents

Alpha-1 is a genetic condition that occurs when you inherit 2 copies of an abnormal gene from your parents. These genes control the production and distribution of the alpha1-antitrypsin (AAT) protein. When you have the 2 abnormal genes, you produce significantly less AAT than other people. In short, you are AAT-deficient and have Alpha-1.4

Family risk if parents have abnormal gene(s)

Allele Algorithm

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

  1. If one of the parents has two abnormal genes (i.e., is an Alpha or 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.

Largely undiagnosed

Alpha-1 is one of the most prevalent potentially fatal hereditary diseases.1 While an estimated 100,000 Americans have Alpha-1, approximately 95% of them remain undiagnosed.2

What’s your Phenotype?

Scientists have identified about 100 genes involved with the production and regulation of AAT.3 The most common abnormal gene is known as Proteinase inhibitor Z (Pi Z). You can get one copy from your mother and one from your father. When you inherit Pi Z from both your mother and father, they combine to form Pi ZZ, which results in Alpha-1.3

Passing it on

Since Alpha-1 is a genetic condition, there is always the potential for passing it on to children. Also, if one member of a family has a Pi Z gene, it raises the likelihood that other blood family members have it, too. If you have a single Pi Z gene, you are a carrier of the gene and might have a higher risk of developing lung disease.

Testing for Alpha-1

Alpha-1 cannot be diagnosed using symptoms alone, but it is easy to diagnose with a simple blood test, which measures three factors for Alpha-1.

Ask your doctor about a free Talecris AlphaKit that can tell if you have Alpha-1.

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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 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. de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest. 2002;122(5):1818-1829.
  2. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with alpha-1 antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186.
  3. 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.
  4. Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med. 1988;84(6A):13-31.