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.
- 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.
- 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.