151453 20260505135412.0 doi 10.1089/respcare.12524 sideral 143142 ART-2025-143142 eng Perales-Afán, Juan José Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis 2025 Access copy available to the general public Unrestricted Background: Alpha-1 antitrypsin is encoded by the polymorphic SERPINA1 gene, with pathogenic variants causing alpha-1 antitrypsin deficiency. While being underrecognized, alpha-1 antitrypsin deficiency can be screened through serum protein electrophoresis (SPE) to detect mutations. This study aimed to evaluate the effectiveness of an SPE-based screening protocol for identifying SERPINA1 mutations and diagnosing alpha-1 antitrypsin deficiency. Methods: This study involved analyzing all SPE tests over one year at the Hospital Clínico Universitario “Lozano Blesa” (Zaragoza, Spain). Alpha-1 antitrypsin concentration was measured in samples with <3% alpha-1 globulin band, selecting those with <100 mg/dL as potential study participants. Participants provided blood samples for the genetic analysis of the SERPINA1 gene. Results: Out of 12,460 SPE tests analyzed, 175 had alpha-1 globulin bands <3%, and 70 cases had alpha-1 antitrypsin concentrations <100 mg/dL. Of these cases, 39 subjects participated in the study. The mean alpha-1 antitrypsin concentration was 78.8 mg/dL. Genetic analysis showed 87.2% had SERPINA1 mutations, with common genotypes being PI*MS, PI*MZ, and PI*SZ. Conclusions: This study confirms the efficacy of SPE as a potential screening strategy for detecting mutations in the SERPINA1 gene. It can facilitate opportunistic diagnosis of alpha-1 antitrypsin deficiency, promoting early detection and treatment. info:eu-repo/semantics/openAccess All rights reserved http://www.europeana.eu/rights/rr-f/ info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion Menao, Sebastián Universidad de Zaragoza (orcid)0000-0002-1817-4549 García-Gutiérrez, Almudena García-Zafra, Laura (orcid)0000-0002-4414-7472 del Castillo-Díez, Enrique Torralba-Cabeza, Miguel Ángel Universidad de Zaragoza (orcid)0000-0001-9760-1248 1007 610 Universidad de Zaragoza Dpto. Medicina, Psiqu. y Derm. Area Medicina 1002 807 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Toxicología 70, 5 (2025), 551-558 Respiratory Care Respiratory Care 0020-1324 599125 http://zaguan.unizar.es/record/151453/files/texto_completo.pdf Postprint 2469057 http://zaguan.unizar.es/record/151453/files/texto_completo.jpg?subformat=icon icon Postprint oai:zaguan.unizar.es:151453 articulos driver 2026-05-05-13:52:58 ARTICLE