{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T07:23:34Z","timestamp":1758266614520,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T00:00:00Z","timestamp":1558656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81870148"],"award-info":[{"award-number":["81870148"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Next generation sequencing identified a <jats:italic>de novo<\/jats:italic>, 204\u00a0kb, tandem duplication (\u03b1\u03b1\u03b1\u03b1<jats:sup>204<\/jats:sup>) in the \u03b1\u2010globin gene cluster of a Chinese thalassaemia intermedia patient. Haplotype analysis showed that the duplicated chromosome was of paternal origin. Molecular analysis of genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> from the patient's lymphocytes, hair follicles, buccal mucosa cells, his father's lymphocytes and sperm cells excluded the possibility of somatic or germinal mosaicism. The analysis also indicated that this duplication arose during spermatogenesis. The microhomology in the breakpoint was found and suggested that this duplication could be formed by a coupled homologous and non\u2010homologous recombination mechanism.<\/jats:p>","DOI":"10.1111\/bjh.15958","type":"journal-article","created":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T09:33:13Z","timestamp":1558690393000},"page":"620-624","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Thalassaemia intermedia caused by coinheritance of a \u03b2\u2010thalassaemia mutation and a <i>de novo<\/i> duplication of \u03b1\u2010globin genes in the paternal allele"],"prefix":"10.1111","volume":"186","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2696-3107","authenticated-orcid":false,"given":"Dejian","family":"Pang","sequence":"first","affiliation":[{"name":"Department of Medical Genetics School of Basic Medical Sciences Southern Medical University Guangzhou Guangdong 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