Everybody inherits two genes that control the production of Alpha-1 antitrypsin—one from each parent. These genes prompt the body to make the Alpha-1-antitrypsin protein. A change or mution in the genes can interfere with the body’s ability to make Alpha-1 antitrypsin properly. People who have a changed or mutated Alpha-1 gene from both parents have Alpha-1 antitrypsin deficiency, or Alpha-1.
Many people inherit one changed gene and one "good" gene. In this case, the "good" Alpha-1 gene received from one parent will generally be able to prompt the body to make sufficient levels of Alpha-1-antitrypsin, though less than "normal" levels. People who have one changed gene but not the disease and are said to be "carriers," with the potential for passing the changed gene on to their children. It is estimated that 25 million people in the US may be carriers of the changed Alpha-1 gene.1
Alpha-1 deficiency is commonly thought of as a rare disorder. Actually, it is a rarely diagnosed disorder: As many as 100,000 people are estimated to have Alpha-1 deficiency—and 95% of them don't know they have it.2 Many or think their disease is related to another condition.
There is only one way to find out if you have Alpha-1 and it is a simple, effective test that can be done —by your doctor or healthcare provider. Find out more about getting tested for Alpha-1.