This genotype causes mild-moderate alpha-1 antitrypsin deficiency (AATD). Risk for lung disease is increased. Not all people with this genotype will develop lung disease. Exact risks are not known. 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 Alleles – AlphaNet
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.
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 PulmonaryMedical 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
S: mild variant
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)
• more common than the Z allele
• doesn’t get trapped in the liver – not typically associated with liver disease
• originated in the Iberian Peninsula (Spain and Portugal)
• low estimate that 5% (possibly as high as 12%) of North Americans are MS