Your Alpha-1 genotype is Null/Null or null/rare. This result suggests the presence of two null or rare mutations for Alpha-1. “Null” mutations in the Alpha-1 gene make no alpha-1 antitrypsin (alpha-1 antitrypsin), and “rare” mutations make altered forms of alpha-1 antitrypsin that may reduce the quantity of alpha-1 antitrypsin in the blood. This is an important finding that may require further testing.Alpha-1 at MUSC – Genetic Counseling
There are over 100 different rare and null mutations for Alpha-1. Examples include Plowell, QOcincinnati, and many others. If you know which rare or null mutations you have (usually from results of advanced testing), more information about your specific results may be available. Call the genetic counselor for details.
The University of Florida Alpha-1 Foundation DNA and Tissue Bank offers testing to clarify suspected rare/null mutations through a research program. If you think you have rare or null mutations, but do not know which ones, you may enroll in this program. You will be sent a kit with a consent form, empty blood tubes and instructions for collecting a blood sample. You will receive results of this test from the DNA and Tissue Bank. To request this more comprehensive blood tube test, contact the DNA and Tissue Bank at their toll free number: 1-855-476-1227, Option 1.
People with two null/rare mutations have a rare form of AATD and are at increased risk for Alpha-1 lung disease, and more rarely, liver disease. People with severe deficiency have risks for lung disease similar to ZZ individuals. We recommend that you follow-up with a physician to discuss personalized screening or management recommendations. A list of Alpha-1 specialists can be found at www.alpha1.org.
If you are confirmed to have rare or null Alpha-1 mutations, your relatives should be offered advanced Alpha-1 testing to detect that can detect those mutations. Contact the genetic counselor with testing questions and to coordinate advanced testing for rare and null mutations. Reproductive partners of people with abnormal alpha-1 genes should also be offered testing to assess risk to children.We have made and will continue to make every effort to provide you with any information you desire about AATD. Should you have questions about your genotype and what it means for you and your family, we recommend you contact the Alpha-1 Foundation Genetic Counseling Program to speak with the genetic counselor. She can be contacted at 1-800-785-3177 to discuss any aspects of AATD.
Patients with the null gene for alpha1-antitrypsin will not produce any alpha1-antitrypsin and are high risk for Obstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. (100% by the age of 30 years). None with the null gene develop liver disease because of a lack of production, and thus accumulation, of alpha1-antitrypsin in the hepatocytes. The null gene is the least common of the known alleles associated with alpha1-antitrypsin deficiency.Alpha1-Antitrypsin Deficiency – Medscape