To help you better understand the content provided on this website, we have provided below a list of frequently used words and their meaning. If you do not see a word that you may have a question about, please contact us directly and we will try to answer any questions you may have.


Genes that carry inheritable characteristics. Alleles come in pairs, and the 2 genes together determine the characteristic. Homozygous alleles refer to pairings with 2 identical genes, heterozygous alleles refer to pairings of 2 different genes. The most common variants (alleles) of the AAT gene are1:

M—the "healthy" gene, which directs the body to produce a normal AAT protein which is secreted into the bloodstream and can neutralize elastase
S—a defective version that directs the body to produce a reduced amount of AAT protein
Z—a defective version that directs the body to produce a functionally limited and a reduced amount of AAT protein
NULL—a rare defective version that causes no alpha1 antitrypsin to be produced at all

Alpha-1 Foundation

Alpha-1 Foundation is the only national research organization solely dedicated to developing the means to cure and control Alpha-1 and to improve the quality of life for those with the disorder. Representatives of the Alpha-1 Foundation and the medical and scientific communities guide the strategic program direction and all activities of the Foundation. For more information, patients can visit or call 877-2-CURE-A1 (877-228-7321).

Alpha1-antitrypsin (AAT) deficiency (alpha-1)

An inherited genetic condition where the body produces limited amounts of an enzyme called alpha-1 antitrypsin (AAT). Additionally, accumulation of alpha-1 Z-protein can cause liver disease in children and adults.


AlphaNet has 1 mission—to improve the lives of individuals affected by alpha1-antitrypsin deficiency. As a not-for-profit organization that is governed by, employs and serves Alphas, AlphaNet is uniquely able to develop and offer programs and services based on a very personal understanding of how Alpha-1 affects the lives of Alphas. In keeping with this mission, AlphaNet provides a wide range of specialized programs and services designed to meet the specific needs of the Alphas it serves.

American Thoracic Society (ATS)

The roots of the American Thoracic Society reach back to 1905, when a small group of physicians decided that the best way to improve care for tuberculosis patients was to share their experiences and discoveries. Today, the ATS has grown into an international society with more than 15,000 members, and is the world's leading medical association dedicated to advancing our clinical and scientific understanding of pulmonary diseases, critical illnesses, and sleep-related breathing disorders.

Big Fat Reference Guide

The Big Fat Reference Guide, a comprehensive guide to living with Alpha-1, was created by alphas for alphas, and is available from AlphaNet. For more information, patients can visit or call 800-577-2638.


One of the threadlike "packages" of genes and other DNA in the nucleus of each cell. Different kinds of organisms have different numbers of chromosomes. Humans have 23 pairs of chromosomes, 46 in all. Each parent contributes one chromosome to each pair, so children get half of their chromosomes from their mother and half from their father.

COPD (chronic obstructive pulmonary disease)

A term used for a group of conditions that cause progressive lung disease and lead to loss of lung function and may decrease gas exchange. Emphysema is an example of COPD.

DNA (deoxyribonucleic acid)

The molecule that encodes genetic information.

Dohmen Life Science Services

Dohmen Life Science Services manages the PROLASTIN DIRECT program. We're leading an industry by making a commitment to a healthier world. Our vision: To create a more efficient, effective, and accessible healthcare supply system for the next generation. Our mission: To empower life science entrepreneurs with infrastructure, insight, and individualized patient care. For more information, visit

FEV1 (forced expiratory volume, 1 second)

FEV1 is how much air you can breathe out in one second. It measures the flow of air in the large airways of the lung and is a measure of how healthy your lungs are. An FEV1 test is usually performed either in your doctor's office or in a pulmonary function test lab.

GeneAidyx LLC

AlphaKit test kits are processed at the Alpha-1 Genetics Laboratory at GeneAidyx in Florida. GeneAidyx is a worldwide consultative alpha-1 laboratory which is solely dedicated to testing for alpha-1.


The functional and physical unit of heredity passed from parent to child. Genes are sequences of DNA. Many genes contain the information for making a specific protein; others are regulatory in function and determine when and where in the body proteins are made.


All the genetic material (DNA) in all chromosomes of a cell of a particular organism.


The total hereditary information present in an individual. Also, genotype can refer to the specific genes that produce a certain characteristic, for example, eye color, or protein such as AAT.


A swelling or inflammation of tissue underneath the skin. Severe alpha-1 patients can sometimes experience multiple painful nodules underneath the skin.


The physical expression of the characteristics produced by genes present in an individual. Eye color, blood type, and hair color are examples of phenotypes produced by genes. Phenotypes can also refer to the actual protein produced by a certain gene.

Proteinase inhibitor

An enzyme that stops or slows the activity of proteinases. Proteinases are enzymes that break down proteins. AAT is a proteinase inhibitor that stops a normally present proteinase in the lungs from attacking normal lung tissue. Without sufficient levels of AAT, lung tissue can be destroyed over time leading to decreased lung function.


The PROLASTIN DIRECT program offers comprehensive, personalized alpha-1 support for patients and physicians and their practices. Patients who are prescribed PROLASTIN-C are automatically enrolled in the PROLASTIN DIRECT program.


Swelling or inflammation of blood vessels, also sometimes occurring in severe alpha-1 patients.

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. DeMeo DL, Silverman EK. α1-Antitrypsin deficiency. 2: genetic aspects of α1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax. 2004;59:259-264.