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The aim of this study was to reveal the frequency of these two disorders in Southwestern China.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A total of 33,596 subjects were enrolled for deletional HPFH\/\u03b4\u03b2\u2010thalassemia, and positive individuals with high fetal hemoglobin (Hb F) level were diagnosed by multiplex ligation\u2010dependent probe amplification (MLPA). A total of 17,834 subjects were analyzed for mutations in the \u03b4\u2010globin gene. Positive samples with low Hb A\n                      <jats:sub>2<\/jats:sub>\n                      levels were confirmed by \u03b4\u2010globin gene sequencing. Furthermore, the pathogenicity and construction of a selected \u03b4\u2010globin mutation were analyzed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 92 suspected cases with Hb F \u22655.0% were further characterized by MLPA. Eight different deletional HPFH\/\u03b4\u03b2\u2010thalassemia were observed at a frequency of 0.024%. In addition, 195 cases suspected to have a \u03b4\u2010globin gene mutation (Hb A\n                      <jats:sub>2<\/jats:sub>\n                      \u22642.0%) were characterized by molecular analysis. \u03b4\u2010Globin gene mutation was found at a frequency of 0.49% in Yunnan. The pathogenicity and construction for a selected \u03b4\u2010globin mutation was predicted.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Screening of these two disorders was analyzed in Southwestern China, which could define the molecular basis of these conditions in this population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.706","type":"journal-article","created":{"date-parts":[[2019,5,2]],"date-time":"2019-05-02T01:30:58Z","timestamp":1556760658000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Analysis of deletional hereditary persistence of fetal hemoglobin\/\u03b4\u03b2\u2010thalassemia and \u03b4\u2010globin gene mutations in Southerwestern China"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9202-4912","authenticated-orcid":false,"given":"Jie","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology The First People\u2019s Hospital of Yunnan Province Kunming China"},{"name":"Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases The First People\u2019s Hospital of Yunnan Province Kunming China"},{"name":"Affiliated Hospital of Kunming University of Science and Technology Kunming China"},{"name":"Department of Hematology The First People\u2019s Hospital of Yunnan Province Kunming China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Yang","sequence":"additional","affiliation":[{"name":"Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases The First People\u2019s Hospital of Yunnan Province Kunming China"},{"name":"Affiliated 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