Are you an Alpha too?  Join our Facebook group!   A1ADSupport


Your Alpha-1 genotype is SS. People with this genotype have approximately 60% of the normal amount of alpha-1 antitrypsin (AAT) in the blood. People with the SS genotype are believed to have a small increased risk for lung disease, similar to genotype MZ carriers (who have similar AAT levels).

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 S mutation to ensure accurate results.

Alpha-1 at MUSC – Genetic Counseling

S: mild variant
• 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

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 PiSS genotype was associated with a similar incidence of obstructive lung disease to controls. Selective bias intrinsic in testing for AAT deficiency and the rarity of the PiSS genotype will make future study of this association dependent on population-based tests.

Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease?Hindawi Pulmonary Medicine