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- W2111475417 abstract "Summary Anti‐Lepore haemoglobins (Hb) are rare β δ fusion variants that arise from non‐homologous crossover during meiosis, resulting in a δ – β δ – β configuration. A novel anti‐Lepore mutation (anti‐Lepore Hong Kong) was found in two Chinese families with raised Hb A 2 . Direct sequencing revealed a crossover within a 54‐bp region spanning the junction of cap site (CAP) and exon 1, which predicted the production of normal δ ‐globin. Determination of α / β ‐mRNA ratios by quantitative real‐time polymerase chain reaction demonstrated downregulation of the β gene in cis due to the interposed β δ fusion gene. Although heterozygotes have normal red cell indices and are clinically silent, compound heterozygotes with β 0 mutation in trans produce a mild thalassaemia intermedia phenotype with a markedly raised Hb A 2 level that may mimic clinically mild Hb E‐ β + ‐thalassaemia. Awareness of the presence of anti‐Lepore Hong Kong will help to resolve diagnostic problems in regions with significant prevalence of globin disorders." @default.
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- W2111475417 date "2006-10-31" @default.
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- W2111475417 title "A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with ?<sup>0</sup>-thalassaemia" @default.
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- W2111475417 doi "https://doi.org/10.1111/j.1365-2141.2006.06383.x" @default.
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