000151453 001__ 151453
000151453 005__ 20250313085413.0
000151453 0247_ $$2doi$$a10.1089/respcare.12524
000151453 0248_ $$2sideral$$a143142
000151453 037__ $$aART-2025-143142
000151453 041__ $$aeng
000151453 100__ $$aPerales-Afán, Juan José
000151453 245__ $$aAlpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis
000151453 260__ $$c2025
000151453 5060_ $$aAccess copy available to the general public$$fUnrestricted
000151453 5203_ $$aBackground: 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.
000151453 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000151453 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000151453 700__ $$0(orcid)0000-0002-1817-4549$$aMenao, Sebastián$$uUniversidad de Zaragoza
000151453 700__ $$aGarcía-Gutiérrez, Almudena
000151453 700__ $$0(orcid)0000-0002-4414-7472$$aGarcía-Zafra, Laura
000151453 700__ $$adel Castillo-Díez, Enrique
000151453 700__ $$0(orcid)0000-0001-9760-1248$$aTorralba-Cabeza, Miguel Ángel$$uUniversidad de Zaragoza
000151453 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000151453 7102_ $$11002$$2807$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Toxicología
000151453 773__ $$g(2025), [7 pp.]$$pRespiratory Care$$tRespiratory Care$$x0020-1324
000151453 8564_ $$s599125$$uhttps://zaguan.unizar.es/record/151453/files/texto_completo.pdf$$yPostprint
000151453 8564_ $$s2469057$$uhttps://zaguan.unizar.es/record/151453/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000151453 909CO $$ooai:zaguan.unizar.es:151453$$particulos$$pdriver
000151453 951__ $$a2025-03-13-08:43:49
000151453 980__ $$aARTICLE