Your Alpha-1 genotype is ZZ. This means that you have AATD. AATD is a genetic condition that raises the risk for the development of chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. obstructive pulmonaryMedical term referring to the lungs. disease (COPD) and, in some cases, liver disease. The Z mutation is a deficiency allele (version of the gene) that causes alpha-1 antitrypsin (AATalpha-1 antitrypsin) to be trapped in the liver and reduces the quantity of alpha-1 antitrypsin in the blood. People with two copies of the Z mutation are at increased risk for both lung and liver disease. We recommend that you follow-up with a physician familiar with Alpha-1 to discuss personalized screening or management recommendations. A list of Alpha-1 specialists can be found at www.alpha1.org.
Alpha-1 at MUSC – Genetic Counseling
Because Alpha-1 is a genetic condition, your result means that your relatives are at increased risk to also have AATD or carry abnormal alpha-1 genes. We encourage you to make your family members aware of the condition in your family and the availability of testing. 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.
Z:
What is Your Phenotype and What Does it Mean? – Kimberly Foil, MS, CGC, Genetic Counseling Program, Alpha-1 Foundation; Division of PulmonaryMedical term referring to the lungs. and Critical Care Medicine, Medical University of South Carolina (MUSC)
• the most common clinically significant allele
• causes misfolding of antitrypsin in the liver – making normal quantities of the protein but it misfolds, gets stuck to others and forms polymers which get stuck in the liver.
• 85% trapped in the liver
• originated in Scandinavia
• estimated that 2-3% of people in North America have one copy of the Z allele