{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T23:13:38Z","timestamp":1773789218276,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,6,14]],"date-time":"2019-06-14T00:00:00Z","timestamp":1560470400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Health Department Research Fund of Guangxi","award":["Z2011449"],"award-info":[{"award-number":["Z2011449"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hb H disease is a serious type of \u03b1\u2010thalassemia which cause moderate anemia while misdiagnosis by routine genetic analysis in a rare or novel Hb H disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study was done on three patients and one fetus in a suspected Hb H disease family. Hb analysis was carried out using capillary electrophoresis (CE), and hematological analysis was conducted with an automated cell counter. Common \u03b1\u2010 and \u03b2\u2010thalassemia mutations were detected by routine genetic analysis (gap\u2010PCR and RDB\u2010PCR). Novel mutation diagnostic methods were based on DNA sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Capillary electrophoresis revealed clinical feature of classic Hb H disease in the proband, and hematology analysis showed moderate anemia (Hb 87\u00a0g\/L). But routine genetic analysis was found that it was only a heterozygote for the \u2010\u2010<jats:sup>SEA<\/jats:sup> deletion. DNA sequencing of \u03b1\u2010globin genes (\u03b11 and \u03b12) identified the breakpoints between nts 34162 and 34171 at \u03b12 gene, named CD 90\u201093 (\u2010AGCTTCGG) mutation. The genotype of proband and fetus was the same \u2010\u2010<jats:sup>SEA<\/jats:sup>\/\u2010\u03b1<jats:sup>CD90\u201093<\/jats:sup>. His father was homozygous for the novel mutation (\u2010\u03b1<jats:sup>CD90\u201093<\/jats:sup>\/\u2010\u03b1<jats:sup>CD90\u201093<\/jats:sup>), and his mother was heterozygote for the \u2010\u2010<jats:sup>SEA<\/jats:sup> deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study for the first time described the novel mutation CD 90\u201093 (\u2010AGCTTCGG). CE is a way to avoid misdiagnosis of rare or novel Hb H disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.22949","type":"journal-article","created":{"date-parts":[[2019,6,14]],"date-time":"2019-06-14T13:25:23Z","timestamp":1560518723000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Detection of Hb H disease caused by a novel mutation and \u2010\u2010<sup>SEA<\/sup> deletion using capillary electrophoresis"],"prefix":"10.1002","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8640-7375","authenticated-orcid":false,"given":"Youqiong","family":"Li","sequence":"first","affiliation":[{"name":"The Center of Reproduction and Genetic People\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi China"},{"name":"The Center of Prenatal Diagnosis People\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Liang","sequence":"additional","affiliation":[{"name":"The Center of Prenatal Diagnosis People\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mao","family":"Tian","sequence":"additional","affiliation":[{"name":"The Center of Prenatal Diagnosis People\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Qin","sequence":"additional","affiliation":[{"name":"The Center of Prenatal Diagnosis People\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Wu","sequence":"additional","affiliation":[{"name":"The Center of Prenatal Diagnosis People\u2019s Hospital of Guangxi Zhuang Autonomous Region Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,6,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01430.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2006.042242"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-13"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/03630269.2014.894478"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-010-1030-1"},{"key":"e_1_2_6_7_1","first-page":"724","article-title":"Molecular diagnosis for a novel deletion mutation of alpha thalassemia","volume":"35","author":"Li Y","year":"2014","journal-title":"Zhonghua Xue Ye Xue Za Zhi"},{"key":"e_1_2_6_8_1","first-page":"1309","article-title":"A novel deletion of \u20102.8 kb removing the entire alpha 2\u2010globin gene observed in a Chinese patient with Hb H","volume":"58","author":"Mo Z","year":"2012","journal-title":"Clin Lab"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2013.01.013"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcla.22949","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.22949","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.22949","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.22949","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T20:56:01Z","timestamp":1694292961000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.22949"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,14]]},"references-count":8,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/jcla.22949"],"URL":"https:\/\/doi.org\/10.1002\/jcla.22949","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,14]]},"assertion":[{"value":"2019-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e22949"}}