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This report presents three novel cases of \u03b1\u2010thalassemia and two novel cases of \u03b2\u2010thalassemia caused by five different mutations in the globin gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Next\u2010generation sequencing (NGS) was used to identify novel \u03b1\u2010 and \u03b2\u2010thalassemia in five individuals, which was confirmed by Sanger sequencing of the globin gene. Hematological parameters were determined by an automated cell counter, and hemoglobin electrophoresis was carried out by a capillary electrophoresis system, respectively. The isoelectric point (pI), molecular weight, and conservation for the mutations were described by the Internet software programs. The pathogenicity for globin mutations was analyzed by bioinformatics analysis and relative quantitative analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>NGS revealed five novel cases of \u03b1\u2010 and \u03b2\u2010thalassemia: HBA2:c.245C&gt;T, HBA2:c.95+11_95+34delCTCCCCTGCTCCGACCCGGGCTCC, HBA2:c.54delC, HBB:c.373C&gt;A, and HBB:c.40G&gt;A. The clinical implications of these mutations were described. Computational predictions were made for pI, amino acid conservation, and pathogenicity of the missense mutation. Relative quantitative data of the \u03b1\u2010globin mRNA were analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Five novel globin mutations were identified in the populations of China, and those mutations were analyzed to provide a mechanistic view for their pathogenicity. These analyzed results improve genetic diagnostics for thalassemia, which can improve screening programs for thalassemia and prenatal diagnosis for Chinese population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1835","type":"journal-article","created":{"date-parts":[[2021,10,28]],"date-time":"2021-10-28T07:40:25Z","timestamp":1635406825000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Five novel globin gene mutations identified in five Chinese families by next\u2010generation sequencing"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8199-9474","authenticated-orcid":false,"given":"Jie","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases The First People\u2019s Hospital of Yunnan Province Kunming Yunnan China"},{"name":"Department of Obstetrics and Gynecology Yunnan 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