Your Alpha-1 genotype is ZI. This means that you have a rare form of AATD. AATD is a genetic condition that raises the risk for the development of A 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 Medical term referring to the lungs. disease (COPD) and, in some cases, liver disease. The Z mutation produces an abnormal protein product that gets trapped in the liver and reduces the level of Alpha-1 protein in the blood. The I mutation results in a reduced quantity of Alpha-1 protein in the blood and is believed to be risk-raising when combined with another Alpha-1 mutation. The ZI genotype, based on a limited amount of literature, results in an increased risk for lung disease. Risk for liver disease is not known to be increased beyond that of an MZ An Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick.. More information about the ZI genotype may be known in the future. 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 and any reproductive partner aware of the condition in your family and the availability of testing. In order for your relatives to have accurate testing the test must look for both the Z and I mutations. Reproductive partners of people with abnormal alpha-1 genes should be offered testing to assess risk to children.
Z:What is Your Phenotype and What Does it Mean? – Kimberly Foil, MS, CGC, Genetic Counseling Program, Alpha-1 Foundation; Division of Pulmonary Medical 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
I: Likely S-like
What is Your Phenotype and What Does it Mean? – Kimberly Foil, MS, CGC, Genetic Counseling Program, Alpha-1 Foundation; Division of Medical term referring to the lungs. and Critical Care Medicine, Medical University of South Carolina (MUSC)
- Moderate deficiency allele
- Not known to accumulate in the liver