Disease
Alpha-1-antitrypsin deficiency1, 2
Gene
SERPINA1
| Inheritance | AR |
|---|---|
| Current Treatments | liver transplantation, infusion of purified human AAT |
| Evidence for Treatment | guideline3, 4 |
| Non-Molecular Testing Availability | yes |
| Non-Molecular Test | AAT serum concentration with PI typing5 |
| ClinGen | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC093 |
| Disease Frequency (per 100,000) | 201, 6 |
| Genes Included in Disease Frequency | SERPINA1 |
| Experimental / Investigational Therapies | https://clinicaltrials.gov/ct2/results?cond=SERPINA1&term=&cntry=&state=&city=&dist= |
References
- 1 https://www.ncbi.nlm.nih.gov/books/NBK1519/#alpha1-a.Summary
- 2 https://pubmed.ncbi.nlm.nih.gov/35748699/
- 3 https://www.ncbi.nlm.nih.gov/pubmed/29191952
- 4 https://www.ncbi.nlm.nih.gov/pubmed/31564856
- 5 https://www.ncbi.nlm.nih.gov/books/NBK1519/
- 6 https://www.nice.org.uk/media/default/About/what-we-do/NICE-guidance/NICE-technology-appraisals/Proposed-appraisals-no-wave/ID8565%20Emphysema%20-%20human%20alpha1-proteinase%20inhibitor%20-%20draft%20scope.pdf
Last Updated: March 5, 2026