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

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.

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?

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.