{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,4]],"date-time":"2026-01-04T02:46:39Z","timestamp":1767494799112,"version":"3.45.0"},"reference-count":13,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2019,8,5]]},"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Untranslated regions (UTRs) play an important role in post-transcriptional regulation of gene expression, including by modulating messenger RNA (mRNA) transport out of the nucleus, translation efficiency, subcellular localisation and stability. Any mutation in this region could alter the stability of mRNA and thereby affect protein synthesis. We analysed if a mutation located in the \u03b1 complex protected region of the \u03b11 globin gene could cause non-deletional \u03b1-thalassaemia by affecting post-transcriptional stability (mRNA stability).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 14 patients without anaemia, normal or slight microcytosis and hypochromia (medium concentration haemoglobin [MCH] &lt;27\u2009pg) were studied. Haemoglobin subtypes were screened using capillary zone electrophoresis and ion-exchange high-performance liquid chromatography (VARIANT II \u03b2-Thalassaemia Short Program). The most common \u03b1-globin mutations were identified by multiplex PCR (Alpha-Globin StripAssay kit) and the molecular characterisation by automatic sequencing of alpha globin genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>All of them shown a novel transversion mutation in nt 778 (C&gt;A), which is located in the 3' UTR in the \u03b1 complex protected region [HBA1: c.*+46C&gt;A].<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This mutation is in the \u03b1RNAmin binding site, so a single nucleotide substitution in this region can decrease mRNA stability by potentially compromising the binding of \u03b1-complex protein to \u03b1RNAmin, favouring the decay of \u03b1-globin mRNA via erythroid cell-enriched endoribonuclease cleavage. In this case, it is a non-deletional \u03b1-thalassaemia. However, in silico and empirical studies predicted that it could be a silent polymorphism. Functional studies should be carried out to confirm whether it is a pathological mutation or a silent polymorphism.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2019-206004","type":"journal-article","created":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T17:16:22Z","timestamp":1566407782000},"page":"14-16","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["C&gt;A substitution in NT 46 of the 3\u2019 UTR region (the \u03b1 complex protected region) of the alpha-1 globin gene: a non-deletional mutation or polymorphism?"],"prefix":"10.1136","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5126-5039","authenticated-orcid":false,"given":"Paloma","family":"Ropero","sequence":"first","affiliation":[{"name":"Hematology, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando Ata\u00falfo","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Hematology, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge M","family":"Nieto","sequence":"additional","affiliation":[{"name":"Hematology, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Villegas","sequence":"additional","affiliation":[{"name":"Hematology, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Sevilla","sequence":"additional","affiliation":[{"name":"Hematology, Hospital Infantil Universitario Ni\u00f1o Jes\u00fas, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Germ\u00e1n","family":"P\u00e9rez","sequence":"additional","affiliation":[{"name":"Hematology, Hospital Sierrallana y Tres Mares, Torrelavega, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Mar\u00eda","family":"Alonso","sequence":"additional","affiliation":[{"name":"Hematology, Complejo Asistencial de Palencia, Palencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valle","family":"Recasens","sequence":"additional","affiliation":[{"name":"Hematology, Hospital Universitario Miguel Servet, Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2374-1579","authenticated-orcid":false,"given":"Mariola","family":"Abio","sequence":"additional","affiliation":[{"name":"Hematology, Hospital Virgen de la Salud, Toledo, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Manuel","family":"Vagace","sequence":"additional","affiliation":[{"name":"Hematology, Hospital Materno Infantil, Badajoz, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raul Jesus","family":"Vanegas","sequence":"additional","affiliation":[{"name":"Hematology, Hospital General de Ciudad Real, Ciudad Real, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Gonz\u00e1lez Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Hematology, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Hematology, Hospital Cl\u00ednico San Carlos, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,8,21]]},"reference":[{"key":"2025112108405094000_73.1.14.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-2725(98)00134-4"},{"key":"2025112108405094000_73.1.14.2","doi-asserted-by":"publisher","DOI":"10.1038\/35067016"},{"key":"2025112108405094000_73.1.14.3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.111145698"},{"key":"2025112108405094000_73.1.14.4","doi-asserted-by":"publisher","DOI":"10.1177\/153537020322800409"},{"key":"2025112108405094000_73.1.14.5","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt911"},{"key":"2025112108405094000_73.1.14.6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20088"},{"key":"2025112108405094000_73.1.14.7","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1080\/03630260902817297","article-title":"Alpha-Thalassemia mutation analyses in Mazandaran Province, North 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ViennaRNA package 2.0. Algorithms Mol Biol 2011;6.doi:10.1186\/1748-7188-6-26","DOI":"10.1186\/1748-7188-6-26"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jclinpath-2019-206004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T16:40:57Z","timestamp":1763743257000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jclinpath-2019-206004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,21]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,12,12]]},"published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1136\/jclinpath-2019-206004"],"URL":"https:\/\/doi.org\/10.1136\/jclinpath-2019-206004","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[2019,8,21]]}}}