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From SNPedia
Magnitude 5
Repute Bad
Summary Likely carrier of one PiS and one PiZ Alpha-1 Antitrypsin (SERPINA1) alleles; A1AT deficiency
Criteria Gs305/criteria

If the PiS mutation is on a different allele (i.e. chromosome) from the PiZ mutation, which is likely, then this genotype represents a "Pi*SZ" individual.

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Consider getting tested for A1AT deficiency.
  • Avoid smoking (and smoke) to reduce COPD risk.
  • Be aware of liver disease potential and need for monitoring; minimize alcohol consumption.
  • Reduce exposure to dust, fumes, gases and air pollutants if possible.
  • Those positive for A1AT deficiency should inform their relatives, especially siblings whose risk of A1AT deficiency is 25%.

The full ClinGen Actionability report about A1AT deficiency can be found here.

Genetic counseling may be available to you through your health-care network. Additional information is available via our Find A Genetic Counselor webpage, located here.