Your Alpha-1 genotype is SS. People with this genotype have approximately 60% of the normal amount of alpha-1 antitrypsin (alpha-1 antitrypsin More) in the blood. People with the SS genotype are believed to have a small increased risk for lung disease, similar to genotype 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 (who have similar alpha-1 antitrypsin More levels).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 S mutation to ensure accurate results.
S: mild variantWhat 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
The PiSS genotype was associated with a similar incidence of obstructive lung disease to controls. Selective bias intrinsic in testing for alpha-1 antitrypsin More 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 Medical term referring to the lungs. More Medicine