Your Alpha-1 genotype is SNull/rare. This result suggests that you have a rare form of AATD. This is an important finding that may require further testing. The S mutation is known to cause a moderate reduction in the quantity of alpha-1 antitrypsin (AATalpha-1 antitrypsin) in the blood and is risk-raising when combined with a second AATD mutation. The degree of risk depends on your other Alpha-1 gene and your AATalpha-1 antitrypsin level. “Null” mutations in the Alpha-1 gene make no alpha-1 antitrypsin (AATalpha-1 antitrypsin), and “rare” mutations make altered forms of AATalpha-1 antitrypsin that may reduce the quantity of AATalpha-1 antitrypsin in the blood.
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 mutation you have (usually from results of advanced testing), more information about that specific mutation 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 a rare or null mutation, but do not know which one, 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.
Individuals with confirmed SNull/rare genotypes have AATD and increased risks for Alpha-1 lung disease. Wewould stress that not all individuals with such genotypes develop lung disease. Most individuals with these genotypes do not have increased risks for liver disease. 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.
Relatives of someone with the Snull/rare genotype are at increased risk to also have abnormal alpha-1 genes and should be offered testing. 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.
