Molecular characterization of a novel 27.6-kb deletion causing α(+) thalassemia in a Chinese family

Annals of Hematology
Xiao-Feng WeiXiang-Min Xu

Abstract

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.

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Citations

May 8, 2019·BMC Medical Genetics·Jianlong ZhuangYuying Jiang
Jun 15, 2019·Journal of Clinical Laboratory Analysis·Youqiong LiXin Wu

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