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HbE, the result of a G to A mutation in codon 26 of the <jats:italic>HBB<\/jats:italic> (\u03b2\u2010globin) gene, activates a cryptic 5\u2032 splice site in codon 25 leading to a reduction of correctly spliced \u03b2<jats:sup>E<\/jats:sup>\u2010globin (<jats:italic>HBB<\/jats:italic>:c.79G&gt;A) mRNA and consequently \u03b2<jats:sup>+<\/jats:sup>\u2010thalassaemia. A wide range of clinical severities in both\u03b1\u2010 and \u03b2\u2010thalassaemia syndromes, from nearly asymptomatic to transfusion\u2010dependent, has been observed. The correlation between clinical heterogeneity in various genotypes of thalassaemia and the levels of globin gene expression and \u03b2<jats:sup>E<\/jats:sup>\u2010globin pre\u2010mRNA splicing were examined using multiplex quantitative real\u2010time reverse transcription polymerase chain reaction (RT\u2010qPCR) and allele\u2010specific RT\u2010qPCR. The \u03b1\u2010globin\/non \u03b1\u2010globin mRNA ratio was demonstrated to be a good indicator for disease severity among different thalassaemia disorders. However, the \u03b1\u2010globin\/non \u03b1\u2010globin mRNA ratio ranged widely in \u03b2\u2010thalassaemia\/HbE patients, with no significant difference between mild and severe phenotypes. Interestingly, the correctly to aberrantly spliced \u03b2<jats:sup>E<\/jats:sup>\u2010globin mRNA ratio in 30% of mild \u03b2\u2010thalassaemia\/HbE patients was higher than that of the severe patients. The splicing process of \u03b2<jats:sup>E<\/jats:sup>\u2010globin pre\u2010mRNA differs among \u03b2\u2010thalassaemia\/HbE patients and serves as one of the modifying factors for disease severity.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2011.08770.x","type":"journal-article","created":{"date-parts":[[2011,7,7]],"date-time":"2011-07-07T08:15:35Z","timestamp":1310026535000},"page":"635-643","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of \u03b2<sup>E<\/sup> pre\u2010mRNA splicing determine disease 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