{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T11:53:15Z","timestamp":1783338795921,"version":"3.54.6"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":274,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Glucose\u20106\u2010phosphate dehydrogenase (G6<jats:styled-content style=\"fixed-case\">PD<\/jats:styled-content>) deficiency is highly prevalent in southern China. The aim of this study is to assess the extent of this disease in Chinese neonates and determine its molecular characteristics using a novel molecular screening method.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 2500 neonates were routinely screened for G6<jats:styled-content style=\"fixed-case\">PD<\/jats:styled-content> deficiency using a modified fluorescent spot test (<jats:styled-content style=\"fixed-case\">FST<\/jats:styled-content>). <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>\u2010high\u2010resolution melting (<jats:styled-content style=\"fixed-case\">HRM<\/jats:styled-content>) analysis was then used for the molecular assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The overall incidence of G6<jats:styled-content style=\"fixed-case\">PD<\/jats:styled-content> deficiency was 2.68% in our study cohort. Frequency in male population was 3.22% (44 neonates of 1365 male neonates), and in female population was 2.03% (23 neonates of 1135 female neonates). Of the 67 newborns suspected to be G6<jats:styled-content style=\"fixed-case\">PD<\/jats:styled-content> deficient based on <jats:styled-content style=\"fixed-case\">FST<\/jats:styled-content> (44 males, 23 females), 58 of 67 (87%) were detected with gene alterations. Seven kinds of mutations [c.95A&gt;G, c.392G&gt;T, c.493A&gt;G, c.871G&gt;A, c.1360C&gt;T, c.1376G&gt;T, and c.1388G&gt;A] were identified by <jats:styled-content style=\"fixed-case\">HRM<\/jats:styled-content> analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Routine newborn screening in Chaozhou, China with a relatively high prevalence of G6<jats:styled-content style=\"fixed-case\">PD<\/jats:styled-content> deficiency is justified and meets the World Health Organization recommendation. The usage of molecular diagnosis can favor the detection of heterozygotes which can be a supplement to regular newborn screening and useful for premarital and prenatal diagnosis for G6<jats:styled-content style=\"fixed-case\">PD<\/jats:styled-content> deficiency.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.12303","type":"journal-article","created":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T16:16:32Z","timestamp":1417450592000},"page":"410-419","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Incidence and molecular characterization of Glucose\u20106\u2010Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China"],"prefix":"10.1111","volume":"37","author":[{"given":"H.","family":"Yang","sequence":"first","affiliation":[{"name":"Laboratory Medical Center Chaozhou Central Hospital Affiliated to Southern Medical University Chaozhou China"},{"name":"Laboratory Medical Center 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