{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T18:05:30Z","timestamp":1763661930313,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2018,11,12]]},"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:p>Interaction of \u03b2<jats:sup>E<\/jats:sup>-globin gene with an in trans \u03b2-thalassaemia gene leads to thalassaemia syndrome, known as haemoglobin (Hb) E-\u03b2-thalassaemia disease, with variable clinical and haematological severity. Here, we reported for the first time the Hb E-\u03b2-thalassaemia syndrome caused alternatively by an in cis interaction of \u03b2<jats:sup>E<\/jats:sup> and a novel IVSI#7;A&gt;G mutation, namely the Hb E-Udon Thani (HBB:c.[79G&gt;A;92+7 A&gt;G]). The syndrome was found in an adult Thai man (32) who was generally healthy but had an unexplained hypochromic microcytosis. Hb analysis identified heterozygous Hb E with very low Hb E expression (3.1%) and elevated Hb A<jats:sub>2<\/jats:sub> (5.7%). Final diagnosis was made on DNA analysis, which confirmed a double mutation in a single \u03b2-globin gene of the patient. A multiplex allele-specific PCR assay was developed for use in the screening of this novel form of Hb E-\u03b2-thalassaemia in the population.<\/jats:p>","DOI":"10.1136\/jclinpath-2018-205525","type":"journal-article","created":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T17:15:31Z","timestamp":1547140531000},"page":"322-324","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Molecular characterisation of haemoglobin E-Udon Thani (HBB:c.[79G&gt;A;92+7A&gt;G]): a novel form of Hb E-\u03b2-thalassaemia syndrome"],"prefix":"10.1136","volume":"72","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, Khon Kaen, 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, Khon Kaen, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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, Khon Kaen, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,1,10]]},"reference":[{"key":"2025092509352245000_72.4.322.1","doi-asserted-by":"publisher","DOI":"10.3109\/03630268709036587"},{"key":"2025092509352245000_72.4.322.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2008.09.002"},{"key":"2025092509352245000_72.4.322.3","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1159\/000435802","article-title":"Phenotype and genotype in a cohort of 312 adult patients with nontransfusion-dependent thalassemia in northeast Thailand","volume":"135","author":"Prayalaw","year":"2016","journal-title":"Acta Haematol"},{"key":"2025092509352245000_72.4.322.4","first-page":"364","article-title":"A simplified screening strategy for thalassaemia and haemoglobin E in rural communities of Southeast Asia","volume":"82","author":"Fucharoen","year":"2004","journal-title":"Bulletin World Health Organ"},{"key":"2025092509352245000_72.4.322.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2013.11.006"},{"key":"2025092509352245000_72.4.322.6","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":"2025092509352245000_72.4.322.7","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/0009-8981(94)90242-9","article-title":"A simple non-radioactive assay for hemoglobin E gene in prenatal diagnosis","volume":"229","author":"Fucharoen","year":"1994","journal-title":"Clin Chim Acta"},{"key":"2025092509352245000_72.4.322.8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0103020"},{"key":"2025092509352245000_72.4.322.9","first-page":"785","article-title":"Interaction of 2 amino acid substitutions within the same beta chain of human hemoglobin: the examples of Hb Corbeil and Hb Villeparisis","volume":"318","author":"Wajcman","year":"1995","journal-title":"C R Acad Sci III"},{"key":"2025092509352245000_72.4.322.10","doi-asserted-by":"crossref","first-page":"205","DOI":"10.3109\/03630269708997381","article-title":"Hb T-Cambodia, a beta chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis","volume":"21","author":"Hutt","year":"1997","journal-title":"Hemoglobin"},{"key":"2025092509352245000_72.4.322.11","doi-asserted-by":"publisher","DOI":"10.1038\/302591a0"},{"key":"2025092509352245000_72.4.322.12","unstructured":"Ivaldi G , Baffico M , Parodi MI . A new mutation in the beta-globin gene (IVS1-7 A-T) discovered in two Italian families. A paper presented at the 9th International Conference on Thalassemia and Hemoglobinopathies, Palermo, Italy, 2003."},{"key":"2025092509352245000_72.4.322.13","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-003-0689-y"},{"key":"2025092509352245000_72.4.322.14","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1080\/03014460.2017.1388844","article-title":"Molecular analysis of haemoglobin E in Southeast Asian populations","volume":"44","author":"Jomoui","year":"2017","journal-title":"Ann Hum Biol"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jclinpath-2018-205525","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:35:28Z","timestamp":1758818128000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jclinpath-2018-205525"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,10]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,3,20]]},"published-print":{"date-parts":[[2019,4]]}},"alternative-id":["10.1136\/jclinpath-2018-205525"],"URL":"https:\/\/doi.org\/10.1136\/jclinpath-2018-205525","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[2019,1,10]]}}}