{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T14:29:49Z","timestamp":1792592989464,"version":"4.5.0"},"reference-count":76,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T00:00:00Z","timestamp":1761868800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006371","name":"Asociaci\u00f3n Universitaria Iberoamericana de Postgrado","doi-asserted-by":"publisher","award":["PMG1-2024-044-12"],"award-info":[{"award-number":["PMG1-2024-044-12"]}],"id":[{"id":"10.13039\/501100006371","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002850","name":"ANID, FONDECYT INI","doi-asserted-by":"publisher","award":["11240623"],"award-info":[{"award-number":["11240623"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005916","name":"Universidad de La Frontera","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005916","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003508","name":"Universitat de Val\u00e8ncia","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003508","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background\/Objectives: Thalassemia comprises a group of heterogeneous hereditary hemoglobinopathies characterized by impaired hemoglobin synthesis due to mutations in the \u03b1, \u03b2, and\/or \u03b4 globin genes. The resulting ineffective erythropoiesis produces anemia of variable severity depending on the affected globin chain. Although \u03b2-thalassemia is most prevalent in the Mediterranean region, the Middle East, and Southeast Asia, migration has contributed to its global spread, including in non-endemic areas. In Chile, published data on \u03b2-thalassemia trait (BTT) and \u03b2-thalassemia major (BTM) remain scarce. This study aimed to estimate the frequency of BTT in referred outpatients to a clinical laboratory in southern Chile. Methods: A retrospective observational study was conducted between January 2021 and November 2024 at a clinical laboratory in Puerto Montt. Complete Blood Cell counts (CBCs) from unique patients were reviewed, and those confirmed with confirmed thalassemia (HbA2 &gt; 3.5%) were selected. Results: During the study period, 24,634 CBCs were reviewed. Sixty patients were confirmed as carriers of BTT, corresponding to a frequency of 0.24% (CI 95%: 0.18\u20130.31%) in the referred outpatients to laboratory (60\/24,634). This occurrence is higher than the only previously published Chilean estimate but lower than frequencies reported in several South American countries. Conclusions: This investigation demonstrates a relatively low but non-negligible frequency of BTT in outpatients from southern Chile. The findings emphasize the importance of considering BTT in the differential diagnosis of microcytic anemia, a condition often underestimated in routine practice. Broader multicenter studies across Chile are warranted to validate these results and to provide a clearer picture of the epidemiology of \u03b2-thalassemia in the country.<\/jats:p>","DOI":"10.3390\/diagnostics15212759","type":"journal-article","created":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T13:55:22Z","timestamp":1762178122000},"page":"2759","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Assessment of \u03b2-Thalassemia Trait Occurrence in an Outpatient Sample from Southern Chile: A Retrospective Study"],"prefix":"10.3390","volume":"15","author":[{"given":"Mario","family":"Balc\u00e1zar-Villarroel","sequence":"first","affiliation":[{"name":"Laboratorio Cl\u00ednico TecnoMedic, Puerto Montt 5502901, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ang\u00e9lica","family":"Mancilla-Uribe","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico TecnoMedic, Puerto Montt 5502901, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Navia-Le\u00f3n","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico TecnoMedic, Puerto Montt 5502901, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Carrasco-Fajardin","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico TecnoMedic, Puerto Montt 5502901, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johana","family":"Bohle-Matamala","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico TecnoMedic, Puerto Montt 5502901, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristian","family":"Calbucura-Ovalle","sequence":"additional","affiliation":[{"name":"Laboratorio Cl\u00ednico TecnoMedic, Puerto Montt 5502901, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8534-208X","authenticated-orcid":false,"given":"Francisco","family":"Torrens","sequence":"additional","affiliation":[{"name":"Institut Universitari de Ci\u00e8ncia Molecular, Universitat de Val\u00e8ncia, 46071 Val\u00e8ncia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Carmine-Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Carrera de Medicina, Facultad de Medicina, Universidad de La Frontera, Temuco 4811230, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3184-6482","authenticated-orcid":false,"given":"Cristian","family":"Sandoval","sequence":"additional","affiliation":[{"name":"Escuela de Tecnolog\u00eda M\u00e9dica, Facultad de Salud, Universidad Santo Tom\u00e1s, Los Carreras 753, Osorno 5310431, Chile"},{"name":"Departamento de Medicina Interna, Facultad de Medicina, Universidad de La Frontera, Temuco 4811230, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna, Facultad de Medicina, Universidad de La Frontera, Temuco 4811230, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,31]]},"reference":[{"key":"ref_1","first-page":"245","article-title":"Introduction to the thalassemia syndromes: Molecular medicine\u2019s index case","volume":"37","author":"Benz","year":"2023","journal-title":"Hematol. 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