{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,14]],"date-time":"2025-12-14T20:00:02Z","timestamp":1765742402346},"reference-count":27,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2015,12,2]]},"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p>This study aimed to detect \u03b1- and \u03b2-thalassaemia mutations in the Jino ethnic minority population of Yunnan Province, Southwest China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>A total of 1613 Jino adults were continuously recruited from February 2012 to April 2012. Fasting venous blood samples were obtained to determine haematological variables. Haemoglobin analysis was conducted using high-performance liquid chromatography. Participants with hypochromic microcytic anaemia or positive haemoglobin analysis profiles were confirmed by \u03b1- and \u03b2-globin genetic testing, including DNA microarray analysis, direct sequencing methods and multiplex gap-PCR assays.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found 363 suspected cases by primary screening of haematological variables and haemoglobin analysis. After further genetic testing, four types of \u03b1- and \u03b2-thalassaemia mutation were detected in 203 out of 363 individuals. Both \u03b1<jats:sup>0<\/jats:sup>- and \u03b1<jats:sup>+<\/jats:sup>-thalassaemia mutations, --<jats:sup>SEA<\/jats:sup>and -\u03b1<jats:sup>3.7<\/jats:sup>, were identified. \u03b2-Thalassaemia mutations included CD17 (HBB:c.52A&gt;T) and CD26 (HbE or HBB:c.79G&gt;A). In addition, 13 HbE carriers had coexisting \u03b1<jats:sup>0<\/jats:sup>- or \u03b1<jats:sup>+<\/jats:sup>-thalassaemia deletions. Clinical haematological variables indicated that, in this study, carriers of all thalassaemic genotypes had more severe hypochromic microcytic anaemia than non-thalassaemic individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results provide information on the Jino ethnic minority that may be useful for further genetic counselling, prenatal screening and clinical diagnosis of thalassaemia in this region.<\/jats:p><\/jats:sec>","DOI":"10.1136\/bmjopen-2015-010047","type":"journal-article","created":{"date-parts":[[2015,12,30]],"date-time":"2015-12-30T02:23:25Z","timestamp":1451442205000},"page":"e010047","update-policy":"http:\/\/dx.doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China"],"prefix":"10.1136","volume":"5","author":[{"given":"Shiyun","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangxin","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuhong","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fusong","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiping","family":"Jia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,12,29]]},"reference":[{"key":"2024051515092022000_5.12.e010047.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2010.05546.x"},{"key":"2024051515092022000_5.12.e010047.2","first-page":"647","article-title":"Thalassemia in SouthEast Asia: problems and strategy for prevention and control","volume":"23","author":"Fucharoen","year":"1992","journal-title":"Southeast Asian J Trop Med Public Health"},{"key":"2024051515092022000_5.12.e010047.3","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1186\/1471-2458-14-905","article-title":"High prevalence of thalassemia in migrant populations in Guangdong Province, China","volume":"14","author":"Li","year":"2014","journal-title":"BMC Public Health"},{"key":"2024051515092022000_5.12.e010047.4","first-page":"579","article-title":"[Epidemiological study of thalasaemia among children in Xishuangbanna, Dehong and Nujiang of Yunnan province]","volume":"28","author":"Yao","year":"2011","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"2024051515092022000_5.12.e010047.5","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3814"},{"key":"2024051515092022000_5.12.e010047.6","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1111\/trf.12571","article-title":"Red blood cell transfusions for thalassemia: results of a survey assessing current practice and proposal of evidence-based guidelines","volume":"54","author":"Goss","year":"2014","journal-title":"Transfusion"},{"key":"2024051515092022000_5.12.e010047.7","doi-asserted-by":"crossref","first-page":"e103780","DOI":"10.1371\/journal.pone.0103780","article-title":"Use of bed nets and factors that influence bed net use among Jinuo Ethnic Minority in southern China","volume":"9","author":"Xu","year":"2014","journal-title":"PLoS ONE"},{"key":"2024051515092022000_5.12.e010047.8","doi-asserted-by":"crossref","first-page":"1908","DOI":"10.1056\/NEJMra1404415","article-title":"The \u03b1-thalassemias","volume":"371","author":"Piel","year":"2014","journal-title":"N Engl J Med"},{"key":"2024051515092022000_5.12.e010047.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra050436"},{"key":"2024051515092022000_5.12.e010047.10","doi-asserted-by":"crossref","unstructured":"Saller E , Dutly F , Frischknecht H . 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