Your Alpha-1 genotype is II. This means that you have two copies of the I mutation in your Alpha-1 genes. 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 II genotype, based on a limited amount of literature, is thought to be associated with an increased risk for lung disease. We would stress that not everyone with this genotype develops symptoms and exact risks are not known. This genotype has not been associated with an increased risk for liver disease. This result should be interpreted in the context of alpha-1 antitrypsin level and clinical symptoms. More information about genotypes involving the I mutation may be known in the future. 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 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. Testing for relatives must evaluate the I mutation to ensure accurate results.
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