{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:33:37Z","timestamp":1791275617131,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,15]],"date-time":"2014-03-15T00:00:00Z","timestamp":1394841600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Hereditary persistence of foetal haemoglobin (<jats:styled-content style=\"fixed-case\">HPFH<\/jats:styled-content>) and (\u03b4\u03b2)<jats:sup>0<\/jats:sup>\u2010thalassaemia are conditions caused by large deletions that involve \u03b4\u2010 and \u03b2\u2010globin genes in the \u03b2\u2010globin cluster, and they are characterized by increased haemoglobin (HbF) levels in adults. Significant phenotypic diversity is observed between the different mutations that cause these conditions. Molecular characterization of these deletions is important for accurate molecular diagnosis, and they will also provide the information on the <jats:italic>cis<\/jats:italic>\u2010acting genetic regulatory elements present in the \u03b2\u2010globin cluster.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed gap\u2010<jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>, multiplex ligation\u2010dependent probe amplification (<jats:styled-content style=\"fixed-case\">MLPA<\/jats:styled-content>), quantitative fluorescent multiplex <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">QF<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">MPCR<\/jats:styled-content>) and <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing to detect and characterize the deletions in the \u03b2\u2010globin cluster.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We characterized six different deletions resulting in (\u03b4\u03b2)<jats:sup>0<\/jats:sup>\u2010thalassaemia or <jats:styled-content style=\"fixed-case\">HPFH<\/jats:styled-content> in 51 unrelated families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>With the help of multiple genetic tools, we performed comprehensive genetic analysis of <jats:styled-content style=\"fixed-case\">HPFH<\/jats:styled-content> and (\u03b4\u03b2)<jats:sup>0<\/jats:sup>\u2010thalassaemia in Indian population and could define the molecular basis of these conditions in this population. We also identified two novel <jats:styled-content style=\"fixed-case\">HPFH<\/jats:styled-content> mutations, 49.98\u00a0kb (<jats:styled-content style=\"fixed-case\">HPFH<\/jats:styled-content>\u20109) and 86.7\u00a0kb (<jats:styled-content style=\"fixed-case\">HPFH<\/jats:styled-content>\u201010) deletions, in this population.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.12276","type":"journal-article","created":{"date-parts":[[2014,1,29]],"date-time":"2014-01-29T08:19:32Z","timestamp":1390983572000},"page":"514-520","source":"Crossref","is-referenced-by-count":16,"title":["Identification of rare and novel deletions that cause (<b>\u03b4\u03b2<\/b>)<sup>0<\/sup>\u2010thalassaemia and hereditary persistence of foetal haemoglobin in <scp>I<\/scp>ndian population"],"prefix":"10.1111","volume":"92","author":[{"given":"Thiyagaraj","family":"Mayuranathan","sequence":"first","affiliation":[{"name":"Department of Haematology Christian Medical College Vellore 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