{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T10:56:08Z","timestamp":1761216968046},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,1,18]],"date-time":"2006-01-18T00:00:00Z","timestamp":1137542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We describe a novel <jats:italic>\u03b1<\/jats:italic>\u2010thalassaemia determinant in a 3\u2010year\u2010old girl presenting a mild microcytic and hypochromic anaemia, and normal haemoglobin A<jats:sub>2<\/jats:sub> level. Molecular studies revealed heterozygosity for a novel microdeletion (\u2212C) at codon 22 of the <jats:italic>\u03b1<\/jats:italic><jats:sub>2<\/jats:sub>\u2010globin gene. As the frameshift mutation generates a premature translation termination codon at position 48\/49, we investigated the effect of the nonsense codon on the <jats:italic>\u03b1<\/jats:italic><jats:sub>2<\/jats:sub>\u2010globin gene expression. Although it does not affect RNA splicing, the premature nonsense codon induces accelerated mRNA degradation. To our knowledge, this is the first time the nonsense\u2010mediated mRNA decay has been reported to occur in human <jats:italic>\u03b1<\/jats:italic>\u2010globin mRNA.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2006.05971.x","type":"journal-article","created":{"date-parts":[[2006,1,18]],"date-time":"2006-01-18T16:01:55Z","timestamp":1137600115000},"page":"98-102","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Human <i>\u03b1<\/i>2\u2010globin nonsense\u2010mediated mRNA decay induced by a novel <i>\u03b1<\/i>\u2010thalassaemia frameshift mutation at codon 22"],"prefix":"10.1111","volume":"133","author":[{"given":"Francisco J. C.","family":"Pereira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria do C\u00e9u","family":"Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Pican\u00e7o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria T.","family":"Seixas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anabela","family":"Ferr\u00e3o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Faustino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u00edsa","family":"Rom\u00e3o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,3,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.7.2056"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830460309"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1992.tb08180.x"},{"key":"e_1_2_5_5_1","first-page":"105","article-title":"Rapid analysis of \u2212\u03b1\n                  3\u00b77 thalassaemia and \u03b1\n                  \u03b1\n                  \u03b1\n                  anti3.7 triplication by enzymatic amplification analysis","volume":"82","author":"Dod\u00e9 C.","year":"1992","journal-title":"British Journal of Haematology"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1081\/HEM-120005458"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(05)80068-X"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M405024200"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1310"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.10.3924"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/17.12.3484"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1355838298971849"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2141.2006.05971.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2141.2006.05971.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T00:46:28Z","timestamp":1697417188000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2141.2006.05971.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3,2]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1111\/j.1365-2141.2006.05971.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2141.2006.05971.x","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,3,2]]},"assertion":[{"value":"2006-03-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}