{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T17:31:57Z","timestamp":1786383117989,"version":"build-2736575974"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:00:00Z","timestamp":1785801600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Natural Science Foundation of Guangxi","award":["2023GXNSFAA026102"],"award-info":[{"award-number":["2023GXNSFAA026102"]}]},{"name":"the Health Department Research Fund of Guangxi","award":["Z-A20240075"],"award-info":[{"award-number":["Z-A20240075"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,8,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Complex structural variants in thalassemia are rare and often undetectable or misdiagnosed by conventional genetic testing methods. We report a case initially misclassified by multiplex ligation-dependent probe amplification (MLPA) as a heterozygous \u2012\u03b13.7 deletion that was subsequently correctly identified by third-generation sequencing (TGS) as the Hong Kong\u03b1\u03b1 (HK\u03b1\u03b1)\/\u2012\u03b14.2 genotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Gap polymerase chain reaction (PCR) was used to screen for 4 common deletional \u03b1-thalassemia variants (\u2014SEA, \u2014THAI, \u2012\u03b13.7, and \u2012\u03b14.2). A PCR-reverse dot blot detected 3 nondeletional mutations. We used MLPA to analyze copy number variations in the \u03b1-globin gene cluster; TGS characterized large deletions, cis\/trans phasing, and complex structural rearrangements.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Gap PCR identified the female patient as a heterozygous \u2014SEA carrier. In the male patient, gap PCR showed 3 bands (\u2012\u03b13.7, wild type, and \u2012\u03b14.2), making genotyping uncertain. The MLPA findings suggested a heterozygous \u2012\u03b13.7 deletion; TGS revealed coexisting deletion and duplication fragments, leading to the final diagnosis of HK\u03b1\u03b1\/\u2012\u03b14.2.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>For HK\u03b1\u03b1 and \u2012\u03b14.2 coinheritance, gap PCR cannot provide an accurate genotype, and MLPA may erroneously report a heterozygous \u2012\u03b13.7 deletion. Third-generation sequencing accurately identified this complex variant, demonstrating its suitability for detecting such structural variants in clinical diagnostics.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/labmed\/lmag048","type":"journal-article","created":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T11:30:56Z","timestamp":1784633456000},"source":"Crossref","is-referenced-by-count":0,"title":["Resolving diagnostic complexity: long-read sequencing unmasks a Hong Kong\u03b1\u03b1\/\u2012\u03b14.2 genotype mimicking a heterozygous \u2012\u03b13.7 deletion on multiplex ligation-dependent probe amplification"],"prefix":"10.1093","volume":"57","author":[{"given":"Youqiong","family":"Li","sequence":"first","affiliation":[{"name":"Center for Medical Genetics and Prenatal Diagnosis, People\u2019s Hospital of Guangxi Zhuang Autonomous Region , 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