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Erschienen in:
01.01.2011 | Original Article
Molecular characterization of a novel 27.6-kb deletion causing α+ thalassemia in a Chinese family
Erschienen in: Annals of Hematology | Ausgabe 1/2011
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Over 80% of the α-thalassemia cases in southern China are caused by large deletions involving the α-globin gene cluster on chromosome 16p13.3. Here, we characterized a novel 27.6-kb deletion on the α-globin gene cluster in a Chinese family. Its breakpoints were detected to lie between coordinates 9079 and 36718 of the α-globin gene cluster (NG_000006.1), with a total of 27,640 nucleotides deleted. It was designated as −α 27.6 deletion. The proband is a compound heterozygote of −−SEA and −α 27.6 and he displayed very mild hemoglobin H disease phenotype with Hb 7.9–9.3 g/dl. Phenotypic analysis on heterozygote of this deletion revealed it as α+ mutation. It leads to a very mild phenotype as adult heterozygotes have normal hematological parameters with the values at the lower border of the normal range. RT-PCR analysis showed that the α-globin mRNA level of the heterozygotes was decreased when compared with that of normal people.