{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:17:27Z","timestamp":1790209047097,"version":"4.1.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:00:00Z","timestamp":1639180800000},"content-version":"vor","delay-in-days":10,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which may manifest as neonatal hyperbilirubinemia, is the most prevalent erythrocytic enzyme-related disease in the world.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To investigate the association between neonatal hyperbilirubinemia and co-inheritance of G6PD deficiency and 211\u2009G to A variation of UGT1A1 in Chaozhou city of eastern Guangdong province, the effects of G6PD deficiency and UGT1A1 gene variant on the bilirubin level were determined in neonates with hyperbilirubinemia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>The activity of G6PD was assayed by an auto-bioanalyzer. PCR and flow-through hybridization were used to detect 14 common G6PD mutations in G6PD deficient neonates. 211\u2009G to A variation of UGT1A1 was determined by PCR and sequencing. The data of neonatal bilirubin was collected and analyzed retrospectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Seventy four cases of the 882 hyperbilirubinemia neonates were G6PD deficiency (8.39%) while 12 cases of the 585 non-hyperbilirubinemia neonates (control group) were G6PD deficiency (2.05%). The rate of G6PD deficiency in the hyperbilirubinemia group was higher than that of the control group. Moreover, the peak bilirubinin of the G6PD-deficient group of hyperbilirubinemia neonates was 334.43\u2009\u00b1\u200979.27\u2009\u03bcmol\/L, higher than that of the normal G6PD group of hyperbilirubinemia neonates (300.30\u2009\u00b1\u200968.62\u2009\u03bcmol\/L). The most common genotypes of G6PD deficiency were\n                      <jats:italic>c.1376G\u2009&gt;\u2009T<\/jats:italic>\n                      and\n                      <jats:italic>c.1388G\u2009&gt;\u2009A<\/jats:italic>\n                      , and the peak bilirubin of neonates with these two variants were 312.60\u2009\u00b1\u200971.81\u2009\u03bcmol\/L and 367.88\u2009\u00b1\u200975.79\u2009\u03bcmol\/L, respectively. The bilirubin level of c.1388G\u2009&gt;\u2009A was significantly higher than that of c.1376G\u2009&gt;\u2009T. Among the 74 hyperbilirubinemia neonates with G6PD deficiency, 6 cases were 211\u2009G to A homozygous mutation (bilirubin levels 369.55\u2009\u00b1\u200984.51\u2009\u03bcmol\/L), 27 cases were 211\u2009G to A heterozygous mutation (bilirubin levels 341.50\u2009\u00b1\u200963.21\u2009\u03bcmol\/L), and 41 cases were wild genotypes (bilirubin levels 324.63\u2009\u00b1\u200957.52\u2009\u03bcmol\/L).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The rate of G6PD deficiency in hyperbilirubinemia neonates was significantly higher than that of the non-hyperbilirubinemia neonates in Chaozhou. For the hyperbilirubinemia group, neonates with G6PD deficiency had a higher bilirubin level compared to those with normal G6PD. For hyperbilirubinemia neonates with G6PD deficiency, there was a declining trend of bilirubin levels among 211\u2009G to A homozygous mutation, heterozygous mutation, and wild genotype, but there was no significance statistically among the three groups.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12887-021-03010-6","type":"journal-article","created":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T01:02:35Z","timestamp":1639184555000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Co-inheritance of G6PD deficiency and 211\u2009G to a variation of UGT1A1 in neonates with hyperbilirubinemia in eastern Guangdong"],"prefix":"10.1186","volume":"21","author":[{"given":"Jia-Xin","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fen","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zi-Kai","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao-Yun","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Fen","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiao-Ren","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Bin","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Dong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Ye","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,12,11]]},"reference":[{"issue":"4792","key":"3010_CR1","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1126\/science.3029864","volume":"235","author":"R Stocker","year":"1987","unstructured":"Stocker R, Yamamoto Y, Mcdonagh AF, Glazer AN, Ames BN. 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Ethical approval was granted by the Institutional Review Boards at Chaozhou Central Hospital Affiliated to Southern Medical University, and a waiver of written consent was approved by the Ethics Committee of Chaozhou Central Hospital.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not Applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"564"}}