{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T23:16:48Z","timestamp":1768346208559,"version":"3.49.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T00:00:00Z","timestamp":1735603200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T00:00:00Z","timestamp":1735603200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"Huaqiao University Joint of Hospital and University Innovation Project","award":["2021YX005"],"award-info":[{"award-number":["2021YX005"]}]},{"name":"Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defects open project","award":["cqzdsys-2022-01"],"award-info":[{"award-number":["cqzdsys-2022-01"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"DOI":"10.1007\/s00277-024-06168-y","type":"journal-article","created":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T11:42:24Z","timestamp":1735645344000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["First clinical and pedigree study of rare HBB: c.316\u201390\u00a0A\u2009>\u2009G variant in \u03b2-globin gene in Chinese population using third-generation sequencing"],"prefix":"10.1007","author":[{"given":"Jianlong","family":"Zhuang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunnuan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,12,31]]},"reference":[{"issue":"4","key":"6168_CR1","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/35066048","volume":"2","author":"DJ Weatherall","year":"2001","unstructured":"Weatherall DJ (2001) Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2(4):245\u2013255","journal-title":"Nat Rev Genet"},{"issue":"10343","key":"6168_CR2","doi-asserted-by":"publisher","first-page":"2310","DOI":"10.1016\/S0140-6736(22)00536-0","volume":"399","author":"A Kattamis","year":"2022","unstructured":"Kattamis A, Kwiatkowski JL, Aydinok Y, Thalassaemia (2022) Lancet 399(10343):2310\u20132324","journal-title":"Lancet"},{"issue":"2","key":"6168_CR3","doi-asserted-by":"publisher","first-page":"a011775","DOI":"10.1101\/cshperspect.a011775","volume":"3","author":"A Cao","year":"2013","unstructured":"Cao A, Kan YW (2013) The prevention of Thalassemia. Cold Spring Harb Perspect Med 3(2):a011775","journal-title":"Cold Spring Harb Perspect Med"},{"key":"6168_CR4","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.bpobgyn.2016.10.013","volume":"39","author":"CK Li","year":"2017","unstructured":"Li CK (2017) New trend in the epidemiology of Thalassaemia. Best Pract Res Clin Obstet Gynaecol 39:16\u201326","journal-title":"Best Pract Res Clin Obstet Gynaecol"},{"issue":"1","key":"6168_CR5","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1186\/s12920-024-02014-2","volume":"17","author":"J Zhuang","year":"2024","unstructured":"Zhuang J, Wang J, Huang N, Zheng Y, Xu L (2024) Application of third-generation sequencing technology for identifying rare \u03b1- and \u03b2-globin gene variants in a Southeast Chinese region. BMC Med Genomics 17(1):241","journal-title":"BMC Med Genomics"},{"issue":"2","key":"6168_CR6","doi-asserted-by":"publisher","first-page":"208","DOI":"10.5858\/arpa.2021-0510-OA","volume":"147","author":"J Zhuang","year":"2023","unstructured":"Zhuang J, Chen C, Fu W et al (2023) Third-generation sequencing as a New Comprehensive Technology for identifying rare \u03b1- and \u03b2-Globin gene variants in thalassemia alleles in the Chinese Population. Arch Pathol Lab Med 147(2):208\u2013214","journal-title":"Arch Pathol Lab Med"},{"issue":"1","key":"6168_CR7","doi-asserted-by":"publisher","first-page":"9966","DOI":"10.1038\/s41598-024-60604-7","volume":"14","author":"J Zhuang","year":"2024","unstructured":"Zhuang J, Zhang N, Zheng Y et al (2024) Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing. Sci Rep 14(1):9966","journal-title":"Sci Rep"},{"key":"6168_CR8","first-page":"69","volume":"6","author":"A Finotti","year":"2015","unstructured":"Finotti A, Breda L, Lederer CW et al (2015) Recent trends in the gene therapy of \u03b2-thalassemia. J Blood Med 6:69\u201385","journal-title":"J Blood Med"},{"key":"6168_CR9","doi-asserted-by":"publisher","first-page":"992073","DOI":"10.3389\/fgene.2022.992073","volume":"13","author":"H Luo","year":"2022","unstructured":"Luo H, Huang T, Lu Q et al (2022) Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China. Front Genet 13:992073","journal-title":"Front Genet"},{"key":"6168_CR10","doi-asserted-by":"publisher","first-page":"1076035","DOI":"10.3389\/fgene.2022.1076035","volume":"13","author":"Q Liu","year":"2023","unstructured":"Liu Q, Chen Q, Zhang Z et al (2023) Identification of rare thalassemia variants using third-generation sequencing. Front Genet 13:1076035","journal-title":"Front Genet"},{"issue":"1","key":"6168_CR11","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1038\/s41467-017-01343-4","volume":"8","author":"M Cretu Stancu","year":"2017","unstructured":"Cretu Stancu M, Van Roosmalen MJ, Renkens I et al (2017) Mapping and phasing of structural variation in patient genomes using nanopore sequencing[J]. Nat Commun 8(1):1326","journal-title":"Nat Commun"},{"issue":"8","key":"6168_CR12","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1016\/j.jmoldx.2020.05.004","volume":"22","author":"L Xu","year":"2020","unstructured":"Xu L, Mao A, Liu H et al (2020) Long-molecule sequencing: a New Approach for Identification of clinically significant DNA variants in \u03b1-Thalassemia and \u03b2-Thalassemia carriers. J Mol Diagn 22(8):1087\u20131095","journal-title":"J Mol Diagn"},{"key":"6168_CR13","doi-asserted-by":"publisher","first-page":"146332","DOI":"10.1016\/j.gene.2022.146332","volume":"822","author":"J Long","year":"2022","unstructured":"Long J, Sun L, Gong F et al (2022) Third-generation sequencing: a novel tool detects complex variants in the \u03b1-thalassemia gene. Gene 822:146332","journal-title":"Gene"},{"issue":"1","key":"6168_CR14","doi-asserted-by":"publisher","first-page":"9907","DOI":"10.1038\/s41598-022-14038-8","volume":"12","author":"C Peng","year":"2022","unstructured":"Peng C, Zhang H, Ren J et al (2022) Analysis of rare thalassemia genetic variants based on third-generation sequencing. Sci Rep 12(1):9907","journal-title":"Sci Rep"},{"issue":"6","key":"6168_CR15","first-page":"1938","volume":"27","author":"Q Liu","year":"2019","unstructured":"Liu Q, Jia ZJ, Xi H et al (2019) [Analysis on the genotype of 5018 cases of Thalassemia in Hunan Area]. Zhongguo Shi Yan Xue Ye Xue Za Zhi 27(6):1938\u20131942","journal-title":"Zhongguo Shi Yan Xue Ye Xue Za Zhi"},{"issue":"4","key":"6168_CR16","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1182\/blood.V72.4.1107.1107","volume":"72","author":"HH Kazazian Jr","year":"1988","unstructured":"Kazazian HH Jr, Boehm CD (1988) Molecular basis and prenatal diagnosis of beta-thalassemia. Blood 72(4):1107\u20131116","journal-title":"Blood"},{"key":"6168_CR17","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1016\/j.ebiom.2017.08.015","volume":"23","author":"X Shang","year":"2017","unstructured":"Shang X, Peng Z, Ye Y et al (2017) Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and clinical genotyping in subjects with Hemoglobinopathies. EBioMedicine 23:150\u2013159","journal-title":"EBioMedicine"},{"issue":"1","key":"6168_CR18","doi-asserted-by":"publisher","first-page":"3493","DOI":"10.1038\/s41598-019-40089-5","volume":"9","author":"H Huang","year":"2019","unstructured":"Huang H, Xu L, Chen M et al (2019) Molecular characterization of Thalassemia and hemoglobinopathy in Southeastern China. Sci Rep 9(1):3493","journal-title":"Sci Rep"},{"issue":"4","key":"6168_CR19","first-page":"403","volume":"30","author":"LP Xu","year":"2013","unstructured":"Xu LP, Huang HL, Wang Y, Zheng L, Wang LS, Xu JB, Huang XX, Lin Y (2013) [Molecular epidemiological analysis of \u03b1- and \u03b2-thalassemia in Fujian Province]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 30(4):403\u2013406","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"issue":"1","key":"6168_CR20","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1080\/16078454.2022.2156720","volume":"27","author":"J Wu","year":"2022","unstructured":"Wu J, Xie D, Wang L et al (2022) Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China. Hematology 27(1):1305\u20131311","journal-title":"Hematology"},{"issue":"1","key":"6168_CR21","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1080\/03630269.2023.2301487","volume":"48","author":"M Chen","year":"2024","unstructured":"Chen M, Lv A, Zhang S et al (2024) First Report of Filipino \u03b20-Thalassemia\/\u03b2-Thalassemia in a Chinese family. Hemoglobin 48(1):34\u201338","journal-title":"Hemoglobin"},{"issue":"5","key":"6168_CR22","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1309\/AJCP7HQ2KWGHECIO","volume":"133","author":"OT Chan","year":"2010","unstructured":"Chan OT, Westover KD, Dietz L, Zehnder JL, Schrijver I (2010) Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. Am J Clin Pathol 133(5):700\u2013707","journal-title":"Am J Clin Pathol"},{"issue":"4","key":"6168_CR23","doi-asserted-by":"publisher","first-page":"e22845","DOI":"10.1002\/jcla.22845","volume":"33","author":"H Zhang","year":"2019","unstructured":"Zhang H, Li C, Li J et al (2019) Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China. J Clin Lab Anal 33(4):e22845","journal-title":"J Clin Lab Anal"},{"issue":"3","key":"6168_CR24","first-page":"243","volume":"37","author":"X Shang","year":"2020","unstructured":"Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Shang X, Wu X, Zhang X, Feng X, Xu X (2020) [Clinical practice guidelines for beta-thalassemia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 37(3):243\u2013251","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"issue":"12","key":"6168_CR25","doi-asserted-by":"publisher","first-page":"e24105","DOI":"10.1002\/jcla.24105","volume":"35","author":"H Wu","year":"2021","unstructured":"Wu H, Huang Q, Yu Z, Zhong Z (2021) Molecular analysis of alpha- and beta-thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China. J Clin Lab Anal 35(12):e24105","journal-title":"J Clin Lab Anal"}],"container-title":["Annals of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-024-06168-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00277-024-06168-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-024-06168-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T11:03:51Z","timestamp":1739358231000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00277-024-06168-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,31]]},"references-count":25,"alternative-id":["6168"],"URL":"https:\/\/doi.org\/10.1007\/s00277-024-06168-y","relation":{},"ISSN":["0939-5555","1432-0584"],"issn-type":[{"value":"0939-5555","type":"print"},{"value":"1432-0584","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,31]]},"assertion":[{"value":"16 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 December 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the ethics committee of the Quanzhou Women\u2019s and Children\u2019s Hospital (2021No.61). We ensured that all patients participating in this study provided written informed consent for publishing their genetic data and related information.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent for publication"}},{"value":"All patients signed written informed consent to participate in this study and agreed to their relevant data and information to be used for scientific research.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The authors declare that they have no conflict of interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}