We are pleased to introduce the newly updated, re-launched Alpha-1 Alleles website (www.alpha1alleles.com). This site provides information for patients, healthcare professionals, and the general public about specific variants in the Alpha-1 antitrypsin deficiency (Alpha-1, AATD, SERPINA1) gene.

“We are excited to provide this tool to the Alpha-1 community so that everyone can be well informed about the risks associated with different genetic variants,” Kimberly Foil, Certified Genetic Counselor and Assistant Professor in the College of Health Professions at the Medical University of South Carolina, said.

For each allele variant or variant combination included in the database, this site will provide known information about:

  • Whether the variant or variant combination contributes to Alpha-1 antitrypsin deficiency
  • The biological mechanism and effect on AAT level
  • Association with lung disease
  • Association with liver disease
  • Healthcare provider information and literature references

The site has video tutorials to provide site users information about Understanding Alpha-1 Antitrypsin Deficiency and Navigating the Alpha-1 Alleles Website.

There is a basic search where users can select their Alpha-1 allele(s) of interest from a drop-down list. If the allele does not appear in the drop-down list, there is an advanced search available to help users find many rare alleles or search for an allele by alternate nomenclature. Although over 100 Alpha-1 alleles are currently reviewed on this site; there are additional alleles that have not yet been added, and novel variants that are likely to be discovered in the future. Additional alleles will be reviewed and added to this site on an ongoing basis.

It’s important to note that the Alpha-1 Alleles site is not intended to help diagnose anyone with Alpha-1 and is not intended to provide medical advice to individual patients. If you have questions about any of the information contained in this website, please consult your doctor.

To explore the site, click here: https://www.alpha1alleles.com.