Alpha-1 and Genetics
How Alpha-1 is passed down through families
Alpha-1 is a genetic disorder.7 The condition is passed down over generations
through our genes—the same things that give us our eye and hair color.
Each person receives two genes that affect the body's production of alpha1
antitrypsin: one from each parent. There are four basic types of these genes: M,
S, Z, and NULL.8,9 The combination of these genes determines the severity
of the condition.2
- M genes are normal genes. A person with two M genes does not have an alpha1
antitrypsin deficiency8,9
- S, Z, and NULL are abnormal genes2
- People with an S gene might not have any symptoms at all, or symptoms might be mild
to moderate, depending on the gene they get from their other parent8,9
- People with Z genes tend to have more serious disease, including chronic obstructive
respiratory disease and emphysema. People who receive a Z gene from one parent are
at risk for serious Alpha-1–related disease, even if they have a normal gene
from their other parent. People with two Z genes have severe Alpha-12,8
- NULL genes are very rare. People with two null genes cannot make any alpha1 antitrypsin8,9
More common than you realize
- 1 in 496 Americans is estimated to have the SS, SZ, or ZZ gene pairs5
- 1 in 17 Americans has at least one gene associated witha risk for Alpha-15
Several scenarios for how Alpha-1 can be passed down through families*
Calculating combinations
Many different gene combinations or genotypes can occur. To provide a practical
way to show all the possible hereditary scenarios, CareZ has created the Alpha-1
Genetics Calculator. By showing how gene combinations can change from one generation
to the next, this simple tool helps to show your family's risk for acquiring Alpha-1
and passing it on.
Calculate Your Risk
This calculator shows possible combinations of the most common alleles of the alpha1 antitrypsin gene: M, S, and Z. Other alleles and allele combinations exist.10 In addition, results provided by the Genetics Calculator are based on statistical probabilities and are not meant to provide a definitive diagnosis of Alpha-1 or your risk for passing the disease on to offspring. If you suspect you have Alpha-1, see your doctor for testing and diagnosis. If you are diagnosed with Alpha-1, encourage blood relatives to do the same, regardless of whether they have any symptoms.
Important Safety Information
Alpha1-Proteinase Inhibitor (Human), Zemaira® is indicated for chronic augmentation and maintenance therapy for adults with alpha1-proteinase inhibitor (A1-PI) deficiency and emphysema. Clinical data demonstrating the long-term effects of chronic augmentation therapy with Zemaira are not available.
Zemaira may not be appropriate for the following adult individuals as they may experience severe reactions, including anaphylaxis: individuals with a known hypersensitivity and/or history of anaphylaxis or severe systemic reaction to A1-PI products or their components, and individuals with selective IgA deficiencies who have known antibodies against IgA.
In clinical studies, the following treatment-related adverse reactions were reported in 1% of subjects: asthenia (fatigue), injection-site pain, dizziness, headache, paresthesia (tingling), and pruritus (itching).
Zemaira is derived from human plasma. The risk of transmission of infectious agents, including viruses and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent, cannot be completely eliminated.
Please see full prescribing information.
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.