{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T22:26:40Z","timestamp":1792189600089,"version":"4.4.0"},"reference-count":41,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Thalassemia is a group of inherited autosomal recessive hemolytic anemia disease caused by reduced or absent synthesis of globin chain\/chains of hemoglobin. Only few studies showed the molecular characterization of \u03b1\u2010 and \u03b2\u2010thalassemia in Meizhou city of China.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 22,401 individuals were collected; hematological and hemoglobin electrophoresis analysis and thalassemia genetic testing were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Eleven thousand and thirty (49.24%) cases with microcytosis (mean corpuscular volume (MCV)\u00a0&lt;\u00a082\u00a0fl), 11,074 (49.44%) cases with hypochromia (mean corpuscular Hb (MCH)\u00a0&lt;\u00a027\u00a0pg) in 22,401\u00a0subjects, 11,085 cases with abnormal hemoglobin results were identified in subjects aged \u22656\u00a0months. 7,322 (32.69%) subjects harbored thalassemia mutations, including 4,841 (21.61%) subjects with \u03b1\u2010thalassemia, 2,237 (9.99%) with \u03b2\u2010thalassemia, and 244 (1.09%) with \u03b1\u2010thalassemia combined \u03b2\u2010thalassemia. 18\u00a0genotypes of \u03b1\u2010thalassemia mutations and 27\u00a0genotypes of \u03b2\u2010thalassemia mutations were characterized. The most frequent \u03b1 gene mutation was \u2010\u2010\n                      <jats:sup>SEA<\/jats:sup>\n                      (64.69%), followed by \u2010\u03b1\n                      <jats:sup>3.7<\/jats:sup>\n                      (19.93%), \u2010\u03b1\n                      <jats:sup>4.2<\/jats:sup>\n                      (7.73%), \u03b1\n                      <jats:sup>CS<\/jats:sup>\n                      \u03b1 (3.97%), and \u03b1\n                      <jats:sup>WS<\/jats:sup>\n                      \u03b1 (2.83%). The six most common \u03b2\u2010thalassemia mutations were IVS\u2010II\u2010654 (C&gt;T) (39.79%), CD41\u201042 (\u2010TCTT) (33.02%), \u221228 (A&gt;G) (10.38%), CD17 (A&gt;T) (9.08%), CD27\u201028 (+C) (2.14%), and CD26 (G&gt;A) (2.02%). In addition, MCV and MCH were sensitive markers for \u03b1\u2010 and \u03b2\u2010thalassemia except for \u2010\u03b1\n                      <jats:sup>3.7<\/jats:sup>\n                      \/\u03b1\u03b1, \u2010\u03b1\n                      <jats:sup>4.2<\/jats:sup>\n                      \/\u03b1\u03b1, \u03b1\n                      <jats:sup>CS<\/jats:sup>\n                      \u03b1\/\u03b1\u03b1, \u03b1\n                      <jats:sup>WS<\/jats:sup>\n                      \u03b1\/\u03b1\u03b1, and \u03b2\n                      <jats:sup>Cap+40\u221243<\/jats:sup>\n                      \/\u03b2\n                      <jats:sup>N<\/jats:sup>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The \u2010\u2010\n                      <jats:sup>SEA<\/jats:sup>\n                      , \u2010\u03b1\n                      <jats:sup>3.7<\/jats:sup>\n                      , and \u2010\u03b1\n                      <jats:sup>4.2<\/jats:sup>\n                      deletions were the main mutations of \u03b1\u2010thalassemia, while IVS\u2010II\u2010654 (C&gt;T), CD41\u201042 (\u2010TCTT), \u221228 (A&gt;G), and CD17 (A&gt;T) mutations of \u03b2\u2010thalassemia in Meizhou. There were some differences in thalassemia mutation frequencies in Meizhou city from other populations in China.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.24105","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T13:18:03Z","timestamp":1636463883000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Molecular analysis of alpha\u2010 and beta\u2010thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1876-9585","authenticated-orcid":false,"given":"Heming","family":"Wu","sequence":"first","affiliation":[{"name":"Center for Precision Medicine Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"},{"name":"Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translational Research of Hakka Population Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"},{"name":"Guangdong Provincial Engineering and Technology Research Center for Clinical Molecular Diagnostics and Antibody Therapeutics Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingyan","family":"Huang","sequence":"additional","affiliation":[{"name":"Center for Precision Medicine Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"},{"name":"Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translational Research of Hakka Population Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"},{"name":"Guangdong Provincial Engineering and Technology Research Center for Clinical Molecular Diagnostics and Antibody Therapeutics Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhikang","family":"Yu","sequence":"additional","affiliation":[{"name":"Center for Precision Medicine Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"},{"name":"Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translational Research of Hakka Population Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"},{"name":"Guangdong Provincial Engineering and Technology Research Center for Clinical Molecular Diagnostics and Antibody Therapeutics Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9997-5339","authenticated-orcid":false,"given":"Zhixiong","family":"Zhong","sequence":"additional","affiliation":[{"name":"Center for Precision Medicine Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"},{"name":"Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translational Research of Hakka Population Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou China"},{"name":"Guangdong Provincial Engineering and Technology Research Center for Clinical Molecular Diagnostics and Antibody Therapeutics Meizhou People's Hospital (Huangtang Hospital) Meizhou Academy of Medical Sciences Meizhou 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