{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T05:44:30Z","timestamp":1774331070020,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82302571"],"award-info":[{"award-number":["82302571"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021171","name":"Basic and Applied Basic Research Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2024A1515011037"],"award-info":[{"award-number":["2024A1515011037"]}],"id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,1]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n Hemoglobinopathies are genetic disorders characterized by structural or quantitative hemoglobin abnormalities. We report the first documented case globally of a novel alpha1 (\u03b11)\u2010variant (HBA1:c.\u201035T>C) co\u2010occurring with Hb M\u2010Saskatoon (HBB:c.190C>T), the latter being identified for the first time in the Chinese population.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Peripheral blood samples were obtained from a 3\u2010year\u2010old Chinese girl presenting with persistent cyanosis, including complete blood count, hemoglobin electrophoresis, and degenerative globin body testing. Hemoglobin variants detected were subsequently characterized through DNA sequencing.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The research subject was diagnosed with different types of abnormal Hb. Hematological analysis revealed normocytic normochromic erythrocytes with mild anemia (Hb 111\u2009g\/L, reference 112\u2013149\u2009g\/L). Electrophoretic analysis detected abnormal hemoglobin fractions: abnormal Hb bands in zone I and s in the E zone near the position of Hb A\n 2<\/jats:sub>\n . Targeted sequencing demonstrated compound heterozygosity for \u03b11\u2010variant (HBA1:c.\u201035T>C) with Hb M\u2010Saskatoon (HBB:c.190C>T).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n We confirmed Hb M\u2010Saskatoon (HBB:c.190C>T) co\u2010occurring with a globally unreported \u03b11\u2010variant (HBA1:c.\u201035T>C) in a Chinese proband. This dual variant expands the global hemoglobinopathy registry and provides critical insights for diagnosing atypical cases, particularly in populations with understudied genetic diversity. This finding elucidates novel genotype\u2013phenotype correlations in complex hemoglobinopathies and underscores the imperative of genetic testing for atypical presentations.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.70187","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T12:16:39Z","timestamp":1767788199000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Alpha1\u2010Variant (HBA1:c.\u201035\n T<\/scp>\n >C) Complexed With the First Reported Hb M\u2010Saskatoon in the Chinese Population"],"prefix":"10.1002","volume":"14","author":[{"given":"Yujing","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunhu","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luan","family":"Luan","sequence":"additional","affiliation":[{"name":"Medical Technology School Xuzhou Medical University Xuzhou Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guanghua","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qianyun","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanfen","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,7]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20103\u2010030\u201041769\u20107_14"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277\u2010025\u201006320\u20102"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/03630268508997029"},{"issue":"4","key":"e_1_2_12_5_1","first-page":"348","article-title":"Hereditary Cyanosis","volume":"62","author":"Baltzan D. 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