{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T22:26:40Z","timestamp":1792189600070,"version":"4.4.0"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"24","license":[{"start":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T00:00:00Z","timestamp":1762732800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004479","name":"Jiangxi Provincial Natural Science Foundation","doi-asserted-by":"publisher","award":["20232BAB216098"],"award-info":[{"award-number":["20232BAB216098"]}],"id":[{"id":"10.13039\/501100004479","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Thalassemia is a genetic blood disorder caused by disrupted hemoglobin synthesis, posing significant public health challenges. This study aims to expand the identification of novel thalassemia variants in a large cohort from pre-marriage screenings in Ganzhou, Southern Jiangxi, China. Data from 229\u2009246 individuals screened through Next-Generation Sequencing (NGS) from 2019 to 2022 led to the identification of 180 participants with novel variants, marking the first large-scale documentation of such variations in the population. Among them, 51.1% were male with a mean age of 27\u00a0years, and the frequency of novel thalassemia variants was 0.079%. We uncovered 180 novel variants, including 68 \u03b1-thalassemia variants across 33 types (0.0297% frequency) and 112 \u03b2-thalassemia variants belonging to 40 unique types (0.0489% frequency). The most common \u03b1-thalassemia genotype was HBA1:c.95\u2009+\u20099C\u2009&amp;gt;\u2009T at 17.65%, while HBB:c.-180G\u2009&amp;gt;\u2009C was most prevalent among \u03b2-thalassemia variants at 23.21%. Ten novel \u03b1-thalassemia variants were linked to mild \u03b1-thalassemia, and clinical phenotypes were documented for 21 complex genotypes. This study catalogues 73 novel variants and highlights the genetic diversity of thalassemia, informing future preventive strategies.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf171","type":"journal-article","created":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T15:46:16Z","timestamp":1762789576000},"page":"2067-2074","source":"Crossref","is-referenced-by-count":1,"title":["Catalog of 73 novel variants in thalassemia: discoveries and insights"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3197-6044","authenticated-orcid":false,"given":"Jungao","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Medical Genetic, Ganzhou Maternal and Child Health Hospital , Ganzhou, Jiangxi Province 341000 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenchang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Huichang County Maternal and Child Health Care Center , Ganzhou, Jiangxi Province ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Miao","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Quannan County Maternal and Child Health Care Center , Ganzhou, Jiangxi Province ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liping","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Xinfeng County Maternal and Child Health Care Center , Ganzhou, Jiangxi Province ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunlong","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Medica, Nankang District Maternal and Child Health Care Center , Ganzhou, Jiangxi Province ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of obstetrics and gynecology, Yudu County Maternal and Child Health Care Center , Ganzhou, Jiangxi Province ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayu","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Premarital Examination, Ganxian District Maternal and Child Health Care Center , Ganzhou, Jiangxi Province ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Xinfeng County Maternal and Child Health Care Center , Ganzhou, Jiangxi Province ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Huang","sequence":"additional","affiliation":[{"name":"Clin Lab, BGI 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