Molecular characterization of a novel 27.6-kb deletion causing α+ thalassemia in a Chinese family
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Xiao-Feng Wei & Xuan Shang & De-Qin He & Ji-Wei Huang & Xin-Hua Zhang & Xiang-Min Xu
- چاپ و سال / کشور: 2010
Description
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.
Ann Hematol (2011) 90:17–22 DOI 10.1007/s00277-010-1030-1 Received: 11 April 2010 / Accepted: 2 July 2010 / Published online: 20 July 2010
