Full siblings of someone with severe alpha-1 antitrypsin deficiency (AATD) can also have severe AATD and should be tested. Parents and children of someone with severe AATD are usually carriers. Genetic testing can be done to confirm someone’s carrier status and rule out the usually low risk of having two mutations in the SERPINA1 gene (severe AATD). Any relative with chronic obstructive pulmonary disease (COPD), incompletely reversible asthma or unexplained liver disease should also be tested. The risk for more distant relatives to have AATD depends on the gene mutations in the family and the closeness of relationship.
If you want to learn whether genetic testing for AATD may be right for you or your family member, speak to your healthcare provider about a referral to see a genetic counselor near you. In the U.S., the Alpha-1 Foundation provides free telephone-based genetic counseling and you can reach this service by calling 1-800-785-3177. Genetic counselors can be found on the National Society of Genetic Counselors website.
Other Questions About Alpha-1-antitrypsin deficiency
- Will I die from alpha-1 antitrypsin deficiency?
- Who should be tested for alpha-1 antitrypsin deficiency?
- Who else should be tested for alpha-1 antitrypsin deficiency?
- Where do I find a center of excellence for alpha-1 antitrypsin deficiency?
- Where can I find other people with alpha-1 antitrypsin deficiency?
