{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:31:28Z","timestamp":1791293488895,"version":"4.1.0"},"reference-count":49,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100002338","name":"Ministry of Education of the People's Republic of China","doi-asserted-by":"publisher","award":["20134433130001"],"award-info":[{"award-number":["20134433130001"]}],"id":[{"id":"10.13039\/501100002338","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81200403"],"award-info":[{"award-number":["81200403"]}],"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":["U1201222"],"award-info":[{"award-number":["U1201222"]}],"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":["U1401221"],"award-info":[{"award-number":["U1401221"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice & Research Clinical Obstetrics & Gynaecology"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1016\/j.bpobgyn.2016.10.012","type":"journal-article","created":{"date-parts":[[2016,10,26]],"date-time":"2016-10-26T00:02:47Z","timestamp":1477440167000},"page":"3-15","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":90,"special_numbering":"C","title":["Update in the genetics of thalassemia: What clinicians need to know"],"prefix":"10.1016","volume":"39","author":[{"given":"Xuan","family":"Shang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangmin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bpobgyn.2016.10.012_bib1","doi-asserted-by":"crossref","first-page":"480","DOI":"10.2471\/BLT.06.036673","article-title":"Global epidemiology of haemoglobin disorders and derived service indicators","volume":"86","author":"Modell","year":"2008","journal-title":"Bull World Health Organ"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib2","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1097\/GIM.0b013e3181fcb468","article-title":"Gene test review. Alpha-thalassemia","volume":"13","author":"Galanello","year":"2011","journal-title":"Genet Med"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib3","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/35066048","article-title":"Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias","volume":"2","author":"Weatherall","year":"2001","journal-title":"Nat Rev Genet."},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib4","doi-asserted-by":"crossref","first-page":"1908","DOI":"10.1056\/NEJMra1404415","article-title":"The alpha-thalassemias","volume":"371","author":"Piel","year":"2014","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib5","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1089\/109065701753145538","article-title":"Universal newborn screening for Hb H disease in California","volume":"5","author":"Lorey","year":"2001","journal-title":"Genet Test"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib6","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1056\/NEJMoa1010174","article-title":"Heterogeneity of hemoglobin H disease in childhood","volume":"364","author":"Lal","year":"2011","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib7","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1196\/annals.1345.004","article-title":"Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis","volume":"1054","author":"Chui","year":"2005","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib8","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/S0140-6736(11)60283-3","article-title":"Thalassaemia","volume":"379","author":"Higgs","year":"2012","journal-title":"Lancet"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib9","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1177\/1535370215596859","article-title":"Cell signaling pathways involved in drug-mediated fetal hemoglobin induction: Strategies to treat sickle cell disease","volume":"240","author":"Pace","year":"2015","journal-title":"Exp Biol Med (Maywood)"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib10","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/nm.3814","article-title":"Anemia: progress in molecular mechanisms and therapies","volume":"21","author":"Sankaran","year":"2015","journal-title":"Nat Med"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib11","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1126\/science.aad3312","article-title":"Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin","volume":"351","author":"Masuda","year":"2016","journal-title":"Science"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib12","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.gde.2015.08.001","article-title":"Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin","volume":"33","author":"Bauer","year":"2015","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib13","doi-asserted-by":"crossref","first-page":"1856","DOI":"10.1182\/blood-2016-01-694331","article-title":"Kruppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants","volume":"127","author":"Perkins","year":"2016","journal-title":"Blood"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib14","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1038\/ng.637","article-title":"KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching","volume":"42","author":"Zhou","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib15","doi-asserted-by":"crossref","first-page":"3080","DOI":"10.1182\/blood-2014-01-453167","article-title":"Erythro-megakaryocytic transcription factors associated with hereditary anemia","volume":"123","author":"Crispino","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib16","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1128\/MCB.01617-12","article-title":"Disruption of the Hbs1l-Myb locus causes hereditary persistence of fetal hemoglobin in a mouse model","volume":"33","author":"Suzuki","year":"2013","journal-title":"Mol Cell Biol."},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib17","doi-asserted-by":"crossref","first-page":"a011718","DOI":"10.1101\/cshperspect.a011718","article-title":"The molecular basis of alpha-thalassemia","volume":"3","author":"Higgs","year":"2013","journal-title":"Cold Spring Harb Perspect Med"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib18","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1007\/s00438-016-1193-0","article-title":"Two novel copy number variations involving the alpha-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families","volume":"291","author":"Hu","year":"2016","journal-title":"Mol Genet Genomics"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib19","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-5-13","article-title":"Alpha-thalassaemia","volume":"5","author":"Harteveld","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib20","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s00277-010-1030-1","article-title":"Molecular characterization of a novel 27.6-kb deletion causing alpha(+) thalassemia in a Chinese family","volume":"90","author":"Wei","year":"2011","journal-title":"Ann Hematol"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib21","doi-asserted-by":"crossref","first-page":"3084","DOI":"10.1093\/hmg\/ddn205","article-title":"A\u00a0large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype","volume":"17","author":"Rugless","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib22","first-page":"297","article-title":"Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events","volume":"91","author":"Law","year":"2006","journal-title":"Haematologica"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib23","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1111\/cge.12021","article-title":"Molecular characterization and clinical presentation of HKalphaalpha and anti-HKalphaalpha alleles in southern Chinese subjects","volume":"83","author":"Shang","year":"2013","journal-title":"Clin Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib24","doi-asserted-by":"crossref","first-page":"481","DOI":"10.3109\/03630269208993116","article-title":"Hb Q-Thailand [alpha 74(EF3)Asp-->His]: gene organization, molecular structure, and DNA diagnosis","volume":"16","author":"Zeng","year":"1992","journal-title":"Hemoglobin"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib25","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1111\/j.1751-553X.2010.01253.x","article-title":"Compound heterozygosity for a rare small deletion and a common point mutation in the beta-globin gene: report of two Chinese families","volume":"33","author":"Shang","year":"2011","journal-title":"Int J Lab Hematol"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib26","doi-asserted-by":"crossref","first-page":"a011700","DOI":"10.1101\/cshperspect.a011700","article-title":"The molecular basis of beta-thalassemia","volume":"3","author":"Thein","year":"2013","journal-title":"Cold Spring Harb Perspect Med"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib27","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/1471-2350-11-31","article-title":"The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity","volume":"11","author":"Chen","year":"2010","journal-title":"BMC Med Genet."},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib28","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1111\/j.1399-0004.2010.01430.x","article-title":"Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China","volume":"78","author":"Xiong","year":"2010","journal-title":"Clin Genet."},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib29","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1182\/asheducation-2013.1.354","article-title":"Genetic association studies in beta-hemoglobinopathies","volume":"2013","author":"Thein","year":"2013","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib30","doi-asserted-by":"crossref","first-page":"3694","DOI":"10.1182\/blood-2015-03-633594","article-title":"alpha-Globin as a molecular target in the treatment of beta-thalassemia","volume":"125","author":"Mettananda","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib31","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.bcmd.2010.11.002","article-title":"Xmn I polymorphism associated with concomitant activation of Ggamma and Agamma globin gene transcription on a beta0-thalassemia chromosome","volume":"46","author":"Haj Khelil","year":"2011","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib32","doi-asserted-by":"crossref","first-page":"433","DOI":"10.3109\/03630269.2012.717515","article-title":"A\u00a0single nucleotide polymorphism in the HBBP1 gene in the human beta-globin locus is associated with a mild beta-thalassemia disease phenotype","volume":"36","author":"Giannopoulou","year":"2012","journal-title":"Hemoglobin"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib33","doi-asserted-by":"crossref","first-page":"11869","DOI":"10.1073\/pnas.0804799105","article-title":"DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease","volume":"105","author":"Lettre","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib34","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1038\/ng2108","article-title":"A\u00a0QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15","volume":"39","author":"Menzel","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib35","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.bcmd.2008.06.007","article-title":"BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies","volume":"41","author":"Sedgewick","year":"2008","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib36","doi-asserted-by":"crossref","first-page":"e92506","DOI":"10.1371\/journal.pone.0092506","article-title":"Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon","volume":"9","author":"Wonkam","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib37","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1097\/MOH.0b013e328329d07a","article-title":"Genetic architecture of hemoglobin F control","volume":"16","author":"Menzel","year":"2009","journal-title":"Curr Opin Hematol"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib38","doi-asserted-by":"crossref","first-page":"1620","DOI":"10.1073\/pnas.0711566105","article-title":"Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia","volume":"105","author":"Uda","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib39","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1136\/jmg.2008.060335","article-title":"The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of beta-thalassaemia","volume":"45","author":"So","year":"2008","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib40","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1111\/cge.12443","article-title":"Changes in hematological parameters in alpha-thalassemia individuals co-inherited with erythroid Kruppel-like factor mutations","volume":"88","author":"Yu","year":"2015","journal-title":"Clin Genet"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib41","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1182\/blood-2014-03-561779","article-title":"KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of beta-thalassemia","volume":"124","author":"Liu","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib42","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/pbc.22167","article-title":"Hemoglobin Hakkari: an autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene","volume":"54","author":"Kanathezhath","year":"2010","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib43","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1007\/s00277-010-1003-4","article-title":"Identification of rare hemoglobin variant (Hb Fairfax) causing dominant beta-thalassemia phenotype in an Iranian family","volume":"90","author":"Akbari","year":"2011","journal-title":"Ann Hematol"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib44","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.bcmd.2008.02.001","article-title":"Identification of a novel frameshift mutation at codon 53 (-T) in the beta-globin gene causing dominantly inherited beta-thalassemia in a Chinese Miao family","volume":"41","author":"Yi","year":"2008","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib45","doi-asserted-by":"crossref","first-page":"913","DOI":"10.3324\/haematol.12195","article-title":"{beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15","volume":"93","author":"Chang","year":"2008","journal-title":"Haematologica"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib46","doi-asserted-by":"crossref","first-page":"691","DOI":"10.3324\/haematol.2012.065219","article-title":"Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset beta-thalassemia major","volume":"98","author":"Harteveld","year":"2013","journal-title":"Haematologica"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib47","doi-asserted-by":"crossref","first-page":"66","DOI":"10.3109\/03630269.2015.1096283","article-title":"A\u00a0Fetus with Hb Bart's Disease Due to Maternal Uniparental Disomy for Chromosome 16","volume":"40","author":"Au","year":"2016","journal-title":"Hemoglobin"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib48","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.bcmd.2010.07.005","article-title":"Hemoglobin H disease due to a de novo mutation at the alpha2-globin gene and an inherited common alpha-thalassemia deletion found in a Chinese boy","volume":"45","author":"Zhu","year":"2010","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.bpobgyn.2016.10.012_bib49","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1002\/ajh.20816","article-title":"Severe beta(0) thalassemia\/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene","volume":"82","author":"Rojnuckarin","year":"2007","journal-title":"Am J Hematol"}],"container-title":["Best Practice & Research Clinical Obstetrics & Gynaecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521693416301201?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521693416301201?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T23:13:31Z","timestamp":1657667611000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521693416301201"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2]]},"references-count":49,"alternative-id":["S1521693416301201"],"URL":"https:\/\/doi.org\/10.1016\/j.bpobgyn.2016.10.012","relation":{},"ISSN":["1521-6934"],"issn-type":[{"value":"1521-6934","type":"print"}],"subject":[],"published":{"date-parts":[[2017,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Update in the genetics of thalassemia: What clinicians need to know","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Obstetrics & Gynaecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bpobgyn.2016.10.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}