{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T11:26:09Z","timestamp":1770981969391,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,10,31]],"date-time":"2006-10-31T00:00:00Z","timestamp":1162252800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2007,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Anti\u2010Lepore haemoglobins (Hb) are rare <jats:italic>\u03b2<\/jats:italic><jats:italic>\u03b4<\/jats:italic> fusion variants that arise from non\u2010homologous crossover during meiosis, resulting in a <jats:italic>\u03b4<\/jats:italic>\u2013<jats:italic>\u03b2<\/jats:italic><jats:italic>\u03b4<\/jats:italic>\u2013<jats:italic>\u03b2<\/jats:italic> configuration. A novel anti\u2010Lepore mutation (anti\u2010Lepore Hong Kong) was found in two Chinese families with raised Hb A<jats:sub>2<\/jats:sub>. Direct sequencing revealed a crossover within a 54\u2010bp region spanning the junction of cap site (CAP) and exon 1, which predicted the production of normal <jats:italic>\u03b4<\/jats:italic>\u2010globin. Determination of <jats:italic>\u03b1<\/jats:italic>\/<jats:italic>\u03b2<\/jats:italic>\u2010mRNA ratios by quantitative real\u2010time polymerase chain reaction demonstrated downregulation of the <jats:italic>\u03b2<\/jats:italic> gene in <jats:italic>cis<\/jats:italic> due to the interposed <jats:italic>\u03b2<\/jats:italic><jats:italic>\u03b4<\/jats:italic> fusion gene. Although heterozygotes have normal red cell indices and are clinically silent, compound heterozygotes with <jats:italic>\u03b2<\/jats:italic><jats:sup>0<\/jats:sup> mutation in <jats:italic>trans<\/jats:italic> produce a mild thalassaemia intermedia phenotype with a markedly raised Hb A<jats:sub>2<\/jats:sub> level that may mimic clinically mild Hb E\u2010<jats:italic>\u03b2<\/jats:italic><jats:sup>+<\/jats:sup>\u2010thalassaemia. Awareness of the presence of anti\u2010Lepore Hong Kong will help to resolve diagnostic problems in regions with significant prevalence of globin disorders.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2006.06383.x","type":"journal-article","created":{"date-parts":[[2006,10,31]],"date-time":"2006-10-31T09:18:57Z","timestamp":1162286337000},"page":"158-162","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["A novel beta\u2010delta globin gene fusion, anti\u2010Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co\u2010inherited with <i>\u03b2<\/i><sup>0<\/sup>\u2010thalassaemia"],"prefix":"10.1111","volume":"136","author":[{"given":"Chi\u2010Chiu","family":"So","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy Y. Y.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stella T. Y.","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anselm C. W.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wing\u2010Yan","family":"Au","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edmond S. K.","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li\u2010Chong","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,10,31]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"973","article-title":"Hb P\u2010Nilotic in association with beta0\u2010thalassaemia: cis\u2010mutation of a haemoglobin betaA chain regulatory determinant","volume":"93","author":"Abu\u2010Sin A.","year":"1979","journal-title":"Journal of Laboratory and Clinical Medicine"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.48.11.1880"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80014-3"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1089\/109065701753617471"},{"key":"e_1_2_5_6_1","volume-title":"Databases of Human Haemoglobin Variants and Other Resources at the Globin Gene Server","author":"Hardison R.C.","year":"2006"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-005-1014-8"},{"key":"e_1_2_5_8_1","doi-asserted-by":"crossref","first-page":"4819","DOI":"10.1016\/S0021-9258(18)61270-0","article-title":"Expression of chimeric human beta\u2010 and delta\u2010globin genes during erythroid differentiation","volume":"262","author":"LaFlamme S.","year":"1987","journal-title":"Journal of Biological Chemistry"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199705013361805"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.7.2503"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.13.8.4836"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/newbio245023a0"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-003-0689-y"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00485761"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V98.1.250"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780470696705"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2141.2006.06383.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2141.2006.06383.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T03:42:28Z","timestamp":1697427748000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2141.2006.06383.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10,31]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"alternative-id":["10.1111\/j.1365-2141.2006.06383.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2141.2006.06383.x","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10,31]]},"assertion":[{"value":"2006-10-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}