127906 20241125101132.0 doi 10.3390/diagnostics13172778 sideral 135079 ART-2023-135079 eng Fernández-Gomez, Beatriz Utility of the serum protein electrophoresis in the opportunistic screening for the deficiency of Alpha-1 Antitrypsin 2023 Access copy available to the general public Unrestricted Background: A deficiency in alpha-1 antitrypsin (AAT1) is a rare disorder that represents a significant health threat and early diagnostic priority issue. We investigated the usefulness of the serum protein electrophoresis (SPE) as an opportunistic screening tool for AAT1 deficiency. Methods: For 6 months, all SPE carried out for any reasons were evaluated in our center. In those with less than 3% of alpha-1 globulins, AAT1 concentrations were studied. The SERPINA1 gene was subsequently sequenced in those patients displaying concentrations below 100 mg/dL. Results: Out of the total, 14 patients (0.3%) were identified with low AAT1 concentrations, with 11 of them agreeing to enter the study. Of those, mutations in the SERPINA1 gene were discovered in 10 patients (91%). Heterozygous mutations were detected in seven patients; three had the c.1096G>A mutation (p.Glu366Lys; Pi*Z), two had the c.863A>T mutation (p.Glu288Val; Pi*S), one had the c.221_223delTCT mutation (p.Phe76del; Pi*Malton), and the last one had the c.1066G>A (p.Ala356Thr) mutation, which was not previously described. Finally, one patient had the c.863A>T mutation in homozygosis, whereas two double heterozygous patients c.863A>T/c.1096G>A were detected. Conclusions: An altered result in the concentration of AAT1 anticipates a mutation in the SERPINA1 gene in a manner close to 91%. The relationship between a decrease in the alpha-1 globulin band of the SPE and an alteration in the AAT1 concentration is direct in basal states of health. The SPE is presented as a highly sensitive test for opportunistic screening of AAT1 deficiency. info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 3.0 2023 MEDICINE, GENERAL & INTERNAL 59 / 329 = 0.179 2023 Q1 T1 0.667 2023 Clinical Biochemistry 2023 Q2 4.7 2023 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Menao-Guillén, Sebastian Universidad de Zaragoza (orcid)0000-0002-1817-4549 Fernandez Gonzalez, Ayla Arruebo Muñio, Maria (orcid)0000-0002-9336-1563 Ramos Alvarez, Monica Universidad de Zaragoza Inda Landaluce, Mercedes Castillo Arce, Maria Angeles 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 13, 17 (2023), 2778 [9 pp] Diagnostics 2075-4418 891747 http://zaguan.unizar.es/record/127906/files/texto_completo.pdf Versión publicada 2752626 http://zaguan.unizar.es/record/127906/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:127906 articulos driver 2024-11-22-11:59:25 ARTICLE