{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:26:32Z","timestamp":1787243192599,"version":"build-2736575974"},"reference-count":43,"publisher":"Walter de Gruyter GmbH","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_cclm-2026-0783_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Thalassemia and hemoglobinopathies are significant genetic disorders in Thailand. Routine diagnostic methods including complete blood count (CBC), hemoglobin (Hb) analysis, and targeted PCR, are effective for detecting common mutations but limited sensitivity for rare and unstable variants, and complex genotypes. Long-read nanopore sequencing may overcome these limitations in a single analytical workflow. This study evaluated the feasibility of CycloneSEQ nanopore sequencing and compared its diagnostic performance with routine methods and DNA nanoball (DNB) short-read sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2026-0783_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>150 EDTA blood samples submitted for routine thalassemia diagnosis were randomly selected. Routine diagnosis included CBC, Hb analysis, and targeted PCR for common \u03b1- and \u03b2-thalassemia mutations. All samples were further analyzed using DNB and CycloneSEQ sequencing. Diagnostic performance, turnaround time, and cost were compared.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2026-0783_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among the three methods, 78.7\u202f% of cases showed concordant results, while 20.0\u202f% could not be fully characterized using routine diagnostic panels. Sequencing methods identified the additional mutations including \u03b1\n                      <jats:sup>+<\/jats:sup>\n                      -thalassemia (-\u03b1\n                      <jats:sup>3.7<\/jats:sup>\n                      ) and rare variants such as Hb Dhonburi, Hb Westmead, etc. Discordant results were observed in 1.3\u202f% of cases. CycloneSEQ required approximately 3\u20135 days for analysis, whereas DNB sequencing required 10\u201312\u00a0days and routine methods required up to 14\u00a0days. Although sequencing costs were approximately 1.7-fold higher than conventional testing, comprehensive mutation detection was achieved in a single\u00a0step.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2026-0783_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>CycloneSEQ nanopore sequencing demonstrated enhanced diagnostic performance compared with conventional methods by enabling a single analytical workflow, and shorter turnaround time. This is particularly beneficial for thalassemia management in Thailand and other high-prevalence\u00a0areas.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/cclm-2026-0783","type":"journal-article","created":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:55:55Z","timestamp":1787241355000},"source":"Crossref","is-referenced-by-count":0,"title":["Diagnostic performance of nanopore sequencing technology for detecting thalassemia and hemoglobinopathy"],"prefix":"10.1515","author":[{"given":"Moe","family":"Theingi","sequence":"first","affiliation":[{"name":"Division of Clinical Microscopy, Department of Medical Technology, Faculty of Associated Medical Sciences , Chiang Mai University , Chiang Mai , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chedtapak","family":"Ruengdit","sequence":"additional","affiliation":[{"name":"Associated Medical Sciences Clinical Service Center, Faculty of Associated Medical Sciences , Chiang Mai University , Chiang Mai , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoo","family":"Punyamung","sequence":"additional","affiliation":[{"name":"Associated Medical Sciences Clinical Service Center, Faculty of Associated Medical Sciences , Chiang Mai University , Chiang Mai , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohan","family":"Wang","sequence":"additional","affiliation":[{"name":"Medical Sciences Program, Graduate Affairs , Faculty of Medicine, Chulalongkorn University , Bangkok , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinyaphat","family":"Khamphikham","sequence":"additional","affiliation":[{"name":"Division of Clinical Microscopy, Department of Medical Technology, Faculty of Associated Medical Sciences , Chiang Mai University , Chiang Mai , Thailand"},{"name":"Hematology and Health Technology Research Center, Department of Medical Technology, Faculty of Associated Medical Sciences , Chiang Mai University , Chiang Mai , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakorn","family":"Pornprasert","sequence":"additional","affiliation":[{"name":"Division of Clinical Microscopy, Department of Medical Technology, Faculty of Associated Medical Sciences , Chiang Mai University , Chiang Mai , Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,8,21]]},"reference":[{"key":"2026082015552878800_j_cclm-2026-0783_ref_001","doi-asserted-by":"crossref","unstructured":"Paiboonsukwong, K, Jopang, Y, Winichagoon, P, Fucharoen, S. 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