{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:46:27Z","timestamp":1786977987585,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,9,4]],"date-time":"2021-09-04T00:00:00Z","timestamp":1630713600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"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\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","award":["2019J01510"],"award-info":[{"award-number":["2019J01510"]}],"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":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Thalassaemia is highly prevalent in southeastern China. This 10\u2010year follow\u2010up study aimed to characterize the genotype and karyotype of thalassaemia in fetal samples derived from thalassemia carriers in Fujian province, southeastern China. A total of 476 prenatal samples from 472 couples carrying \u03b1\u2010thalassaemia traits and 224\u00a0samples from 223 couples carrying \u03b2\u2010thalassaemia traits were collected for STR analysis, detection of thalassemia genotypes and karyotyping. The common deletional \u03b1\u2010thalassemias and rare thalassemia genotypes were detected using Gap\u2010PCR assay, and the common\n                    <jats:italic>\u03b2<\/jats:italic>\n                    \u2010\n                    <jats:italic>globin<\/jats:italic>\n                    gene mutations were detected using PCR\u2010RDB assay. We detected 43.49% prevalence of \u03b1\u2010thalassaemia minor, 26.05% prevalence of \u03b1\u2010thalassaemia intermediate and major and 1.89% prevalence of rare form among the 476 prenatal samples from couples with \u03b1\u2010thalassaemia, and 85 fetuses with \u03b2\u2010thalassemia heterozygote, 16 with homozygote and 21 with double heterozygote, and a rare \u03b2\n                    <jats:sup>IVS\u22122\u2212654(C\u2192T)<\/jats:sup>\n                    \/Chinese G\n                    <jats:sub>\u03b3<\/jats:sub>\n                    (\n                    <jats:sup>A<\/jats:sup>\n                    \u03b3\u03b4\u03b2)\n                    <jats:sup>0<\/jats:sup>\n                    \u00a0genotype among the 224 prenatal samples from couples with \u03b2\u2010thalassemia. Karyotyping showed 7 fetuses with abnormal karyotypes. Totally 153 pregnancies were terminated, and genetic diagnosis of thalassemia using fetal umbilical cord blood following induction of labor showed consistent results with prenatal diagnosis. No thalassemia phenotypes were identified in normal infants half a year after birth, and the infants with \u03b1\u2010thalassemia and \u03b2\u2010thalassemia minor had no or mild anemia symptoms, but normal development, while 15 babies with hemoglobin H disease presented moderate anemia symptoms. Our data suggest the pregestational screening of thalassemia, notably compound and rare forms of thalassemia, for couples carrying thalassemia traits.\n                  <\/jats:p>","DOI":"10.1002\/jcla.23982","type":"journal-article","created":{"date-parts":[[2021,9,4]],"date-time":"2021-09-04T05:42:39Z","timestamp":1630734159000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10\u2010year follow\u2010up study"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2924-399X","authenticated-orcid":false,"given":"Hailong","family":"Huang","sequence":"first","affiliation":[{"name":"Center for Medical Genetic Diagnosis and Therapy Fujian Maternity and Child Health Hospital Affiliated Hospital of Fujian Medical University Fuzhou, Fujian Province China"},{"name":"Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou, Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7356-8751","authenticated-orcid":false,"given":"Meihuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Center for Medical Genetic Diagnosis and Therapy Fujian Maternity and Child Health Hospital Affiliated Hospital of Fujian Medical University Fuzhou, Fujian Province China"},{"name":"Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou, Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingji","family":"Chen","sequence":"additional","affiliation":[{"name":"Center for Medical Genetic Diagnosis and Therapy Fujian Maternity and Child Health Hospital Affiliated Hospital of Fujian Medical University Fuzhou, Fujian Province China"},{"name":"Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou, Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1027-7196","authenticated-orcid":false,"given":"Min","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetic Diagnosis and Therapy Fujian Maternity and Child Health Hospital Affiliated Hospital of Fujian Medical University Fuzhou, Fujian Province China"},{"name":"Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou, Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetic Diagnosis and Therapy Fujian Maternity and Child Health Hospital Affiliated Hospital of Fujian Medical University Fuzhou, Fujian Province China"},{"name":"Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou, Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Lin","sequence":"additional","affiliation":[{"name":"Center for Medical Genetic Diagnosis and Therapy Fujian Maternity and Child Health Hospital Affiliated Hospital of Fujian Medical University Fuzhou, Fujian Province China"},{"name":"Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou, Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liangpu","family":"Xu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetic Diagnosis and Therapy Fujian Maternity and Child Health Hospital Affiliated Hospital of Fujian Medical University Fuzhou, Fujian Province China"},{"name":"Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou, Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,9,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31822-6"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2016.10.013"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2017.11.008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2010.08.009"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2017.11.006"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1188\/16.CJON.310-317"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.2147\/IJWH.S89308"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12108"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2017.1299753"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2005.054189"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.4081\/hr.2019.7911"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1404415"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.173"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-00967-2"},{"issue":"4","key":"e_1_2_9_16_1","first-page":"403","article-title":"Molecular epidemiological analysis of \u03b1\u2010 and \u03b2\u2010thalassemia in Fujian province","volume":"30","author":"Xu LP","year":"2013","journal-title":"Chin J Med Genet"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-40089-5"},{"key":"e_1_2_9_18_1","volume-title":"Blue Book of Thalassemia in China (2015)","author":"Beijing AngelMom Charity Foundation, China Siyuan Foundation for Poverty Alleviation, Beijing Normal University","year":"2015"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2018GS112057"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ped4.12021"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ogc.2017.02.004"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737159.2017.1285701"},{"issue":"2","key":"e_1_2_9_23_1","first-page":"86","article-title":"Maternal cell contamination of prenatal samples and the potential effects on prenatal diagnosis results","volume":"48","author":"Hou QF","year":"2013","journal-title":"Zhonghua Fu Chan Ke Za Zhi"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5319"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2018.1.353"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2003.014456"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.3109\/03630269.2010.547429"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.02.014"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199901)60:1<80::AID-AJH17>3.0.CO;2-W"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(200001)63:1<54::AID-AJH12>3.0.CO;2-B"},{"issue":"10","key":"e_1_2_9_31_1","first-page":"1171","article-title":"Analysis of an individual and his family carrying 2.4kb deletional alpha\u2010thalassemia gene","volume":"27","author":"Long J","year":"2019","journal-title":"Chin J Birth Health Hered"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.23982","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.23982","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.23982","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T03:38:23Z","timestamp":1693193903000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.23982"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,4]]},"references-count":30,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1002\/jcla.23982"],"URL":"https:\/\/doi.org\/10.1002\/jcla.23982","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,4]]},"assertion":[{"value":"2021-06-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e23982"}}