{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:26:36Z","timestamp":1787163996371,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,9]],"date-time":"2020-09-09T00:00:00Z","timestamp":1599609600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81970170"],"award-info":[{"award-number":["81970170"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["2019J01510"],"award-info":[{"award-number":["2019J01510"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["2018"],"award-info":[{"award-number":["2018"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["\u20101\u2010"],"award-info":[{"award-number":["\u20101\u2010"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["21,"],"award-info":[{"award-number":["21,"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["2017"],"award-info":[{"award-number":["2017"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["\u20102\u201010"],"award-info":[{"award-number":["\u20102\u201010"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Low HbA\n                      <jats:sub>2<\/jats:sub>\n                      level is an underlying of \u03b4\u2010thalassemia, \u03b1\u2010thalassemia, and IDA. Interactions of these disorders can generate a wide spectrum of phenotype, which will pose diagnostic conundrum for clinical assessment, carrier screening, and genetic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Subjects with HbA\n                      <jats:sub>2<\/jats:sub>\n                      levels below 2.0% with normal or reduced hematological parameters were recruited for further investigation. \u03b4\u2010globin gene mutations were identified by DNA sequencing of the HBD gene. Serum ferritin (SF) concentration was determined by the chemiluminescent microparticle immunoassay. The three common deletional \u03b1\u2010thalassemia (\u2010\u2010\n                      <jats:sup>SEA<\/jats:sup>\n                      \/\u03b1\u03b1, \u2010\u03b1\n                      <jats:sup>3.7<\/jats:sup>\n                      \/\u03b1\u03b1, and \u2010\u03b1\n                      <jats:sup>4.2<\/jats:sup>\n                      \/\u03b1\u03b1) were detected using Gap\u2010PCR, detection of the point mutations in the three nondeletional \u03b1\u2010thalassemia (\u03b1\n                      <jats:sup>CS<\/jats:sup>\n                      \u03b1\/\u03b1\u03b1,\u03b1\n                      <jats:sup>QS<\/jats:sup>\n                      \u03b1\/\u03b1\u03b1,\u03b1\n                      <jats:sup>WS<\/jats:sup>\n                      \u03b1\/\u03b1\u03b1), and the 17 common \u03b2\u2010thalassemia was performed using reverse dot blot hybridization (RDB).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We had characterized the \u03b4\u2010globin gene mutations in 20 cases, revealing a frequency of 0.4% in the women of reproductive age (20\/4 792). Two previously known mutations:\n                      <jats:italic>\u201077\u00a0T\u00a0&gt;\u00a0C<\/jats:italic>\n                      and\n                      <jats:italic>\u221230\u00a0T\u00a0&gt;\u00a0C<\/jats:italic>\n                      and 3 novel \u03b4\u2010globin gene defects:\n                      <jats:italic>\u221244G\u00a0&gt;\u00a0A,CD87C\u00a0&gt;\u00a0T,<\/jats:italic>\n                      and\n                      <jats:italic>CD134T\u00a0&gt;\u00a0A<\/jats:italic>\n                      were found. In the selected cases, we also found 85 cases confirmed with (51.2%,85\/166) IDA and 39 cases (23.5%,39\/166) with common \u03b1\u2010thalassemia. Subjects with \u03b4\u2010thalassemia had statistically higher levels of Hb, MCV, and MCH compared with other two groups, whereas statistically lower levels of RDW were seen in \u03b4\u2010thalassemia group. What's more, statistically higher levels of SF were seen in \u03b4\u2010thalassemia group, compared with IDA groups.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We reported the spectrum of \u03b4\u2010thalassemia mutations for the first time with the frequency of 0.4% among women of reproductive age in Fujian area and found that\n                      <jats:italic>\u221277T\u00a0&gt;\u00a0C<\/jats:italic>\n                      mutation was the most common mutation, followed by\n                      <jats:italic>\u221230T\u00a0&gt;\u00a0C<\/jats:italic>\n                      mutation. What's more, 3 novel \u03b4\u2010globin gene defects:\n                      <jats:italic>\u221244G\u00a0&gt;\u00a0A,CD87C\u00a0&gt;\u00a0T<\/jats:italic>\n                      and\n                      <jats:italic>CD134T\u00a0&gt;\u00a0A<\/jats:italic>\n                      were found. A thorough analysis of the hematological, electrophoretic characterization, and the level of SF was needed to suspect and further investigate the existence of IDA, \u03b1\u2010thalassemia, and \u03b4\u2010thalassemia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.23479","type":"journal-article","created":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T12:16:38Z","timestamp":1601036198000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["First report of the spectrum of \u03b4\u2010globin gene mutations among women of reproductive age in Fujian area\u2014Discrimination of \u03b4\u2010thalassemia, \u03b1\u2010thalassemia, and Iron Deficiency Anemia"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7356-8751","authenticated-orcid":false,"given":"Meihuan","family":"Chen","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center of 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