{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:26:23Z","timestamp":1790803583606,"version":"4.1.0"},"reference-count":22,"publisher":"BMJ","issue":"8","license":[{"start":{"date-parts":[[2020,1,24]],"date-time":"2020-01-24T00:00:00Z","timestamp":1579824000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Science and Technology Planning Project of Zhongshan","award":["2017B1007"],"award-info":[{"award-number":["2017B1007"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2019,12,18]]},"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>Thalassaemia is one of the most common genetics disorders in the world, especially in southern China. The aim of the present study was to investigate the feasibility of combining the gap-PCR and next-generation sequencing (NGS) for thalassaemia carrier screening in the Chinese population.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Blood samples were obtained from 944 prepregnancy couples; thalassaemia carrier screening was performed by using a routine haematological method and a combination of gap-PCR and NGS method.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We found that the \u03b1 thalassaemia carrier rate was 11% (207\/1888); the \u03b2 thalassaemia carrier rate was 3.7% (70\/1888); the composite \u03b1 thalassaemia and \u03b2 thalassaemia carrier rate was 0.4% (8\/1888). We also identified seven novel mutations, including <jats:italic>HBA1<\/jats:italic>: c.412A&gt;G, \u221250 (G&gt;A), <jats:italic>HBB<\/jats:italic>: c.*+129T&gt;A, <jats:italic>HBB<\/jats:italic>: c.-64G&gt;C, <jats:italic>HBB<\/jats:italic>: c.-180G&gt;C, <jats:italic>HBB<\/jats:italic>: c.*+5G&gt;A\u2009and <jats:italic>HBB<\/jats:italic>: c.-113A&gt;G. By comparing the combined gap-PCR and NGS method, the MCV+MCH\u2009and HbA2 detection strategy showed a lower sensitivity of 61.05% (105\/172) and a higher missed diagnosis ratio of 38.95% (67\/172) for \u03b1 thalassaemia mutations. The sensitivity was improved with the MCV+MCH\u2009and HbA2 detection screen when compared with MCV+MCH detection for \u03b2 thalassaemia (98.51% vs 85.90%).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our study suggests the combined gap-PCR and NGS method is a cost-effective method for the thalassaemia carrier screening, particularly for the \u03b1 thalassaemia mutation carriers.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jclinpath-2019-206339","type":"journal-article","created":{"date-parts":[[2020,1,24]],"date-time":"2020-01-24T14:09:37Z","timestamp":1579874977000},"page":"488-492","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":46,"title":["Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China"],"prefix":"10.1136","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4074-9476","authenticated-orcid":false,"given":"Jianghong","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Xiaolan Hospital Affiliated to Southern Medical University, Zhongshan, Guangdong province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Thyroid and Breast, Shanghai Tenth People's Hospital, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiaohong","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Xiaolan Hospital Affiliated to Southern Medical University, Zhongshan, Guangdong province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanping","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics 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