{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T16:25:30Z","timestamp":1763742330434,"version":"3.45.0"},"reference-count":10,"publisher":"BMJ","issue":"8","funder":[{"name":"Post-Doctoral training program, Graduate School, Khon Kaen University, Thailand","award":["59256"],"award-info":[{"award-number":["59256"]}]},{"name":"TRF Research Team Promotion Grant (RTA), Thailand Science Research and Innovation (TSRI), Thailand","award":["RTA6280005"],"award-info":[{"award-number":["RTA6280005"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2019,12,13]]},"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:p>\n                    We describe a dominant \u03b2-thalassaemia caused by a deletion of G at nucleotide position 364 in exon 3 of the \u03b2-globin gene. The heterozygosity of this mutation was found in a 36-year-old Thai patient who had moderate hypochromic microcytic anaemia with haemolytic blood picture. Haemoglobin (Hb) analysis revealed relatively higher Hbs A\n                    <jats:sub>2<\/jats:sub>\n                    (6.8%) and F (4.7%) as compared with those of \u03b2\n                    <jats:sup>0<\/jats:sup>\n                    -thalassaemia (n=278) and \u03b2\n                    <jats:sup>+<\/jats:sup>\n                    -thalassaemia (n=55) carriers in our series. Secondary structure prediction of the elongated \u03b2-globin chain showed that the \u03b1-helix at the C-terminal is disrupted dramatically by the random coil and \u03b2-sheet, which should result in a highly unstable \u03b2-globin variant, undetectable in peripheral blood and a dominant clinical phenotypic feature.\n                  <\/jats:p>","DOI":"10.1136\/jclinpath-2019-206308","type":"journal-article","created":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T17:15:13Z","timestamp":1577380513000},"page":"511-513","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Dominant \u03b2-thalassaemia with unusually high Hb A\n                    <sub>2<\/sub>\n                    and Hb F caused by \u03b2\n                    <sup>CD121(\u2212G)<\/sup>\n                    (HBB:c.364delG) in exon 3 of \u03b2-globin gene"],"prefix":"10.1136","volume":"73","author":[{"given":"Kritsada","family":"Singha","sequence":"first","affiliation":[{"name":"Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossarin","family":"Karnpean","sequence":"additional","affiliation":[{"name":"College of Medicine and Public Health, Ubon Ratchathani University, Warinchamrap, Ubon Ratchathani, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goonnapa","family":"Fucharoen","sequence":"additional","affiliation":[{"name":"Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9142-5079","authenticated-orcid":false,"given":"Supan","family":"Fucharoen","sequence":"additional","affiliation":[{"name":"Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,12,26]]},"reference":[{"key":"2025112108223558000_73.8.511.1","doi-asserted-by":"crossref","unstructured":"Weatherall DJ , Clegg JB . The thalassemia syndromes. 4th edn. Oxford UK: Blackwell, 2001.","DOI":"10.1002\/9780470696705"},{"key":"2025112108223558000_73.8.511.2","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0103020","article-title":"IthaGenes: an interactive database for haemoglobin variations and epidemiology","volume":"9","author":"Kountouris","year":"2014","journal-title":"PLoS One"},{"key":"2025112108223558000_73.8.511.3","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1002\/pd.2514","article-title":"Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single University center","volume":"30","author":"Yamsri","year":"2010","journal-title":"Prenat Diagn"},{"key":"2025112108223558000_73.8.511.4","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.clinbiochem.2013.01.022","article-title":"Molecular and hematological characteristics of a novel form of \u03b1-globin gene triplication: the hemoglobin St.Luke's-Thailand [\u03b195(G2)Pro\u2192Arg] or Hb St. Luke's [A2] HBA2","volume":"46","author":"Singha","year":"2013","journal-title":"Clin Biochem"},{"key":"2025112108223558000_73.8.511.5","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-015-2335-x"},{"key":"2025112108223558000_73.8.511.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(99)01540-6"},{"key":"2025112108223558000_73.8.511.7","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.bcmd.2011.05.003","article-title":"Genotype and phenotype characterizations in a large cohort of \u03b2-thalassemia heterozygote with different forms of \u03b1-thalassemia in northeast Thailand","volume":"47","author":"Yamsri","year":"2011","journal-title":"Blood Cells Mol Dis"},{"key":"2025112108223558000_73.8.511.8","doi-asserted-by":"crossref","DOI":"10.1186\/s12881-017-0428-1","article-title":"Two novel C-terminal frameshift mutations in the \u03b2-globin gene lead to rapid mRNA decay","volume":"18","author":"Rawa","year":"2017","journal-title":"BMC Med Genet"},{"key":"2025112108223558000_73.8.511.9","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1999.01492.x"},{"key":"2025112108223558000_73.8.511.10","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1080\/03630269.2019.1599907","article-title":"Compound Heterozygote for a Novel Elongated C-Terminal \u03b2-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous \u03b1-Thalassemia-2","volume":"43","author":"Nuinoon","year":"2019","journal-title":"Hemoglobin"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jclinpath-2019-206308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T16:22:44Z","timestamp":1763742164000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jclinpath-2019-206308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,26]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2020,7,20]]},"published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1136\/jclinpath-2019-206308"],"URL":"https:\/\/doi.org\/10.1136\/jclinpath-2019-206308","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[2019,12,26]]}}}