Article
A novel promoter mutation (HBB: c.-75G>T) was identified as a cause of β(+)-thalassemia.
Hemoglobin - 1 Jan 2015
Li Zeyong, Li Lei, Yao Yachao, Li Nan, Li Yahong, Zhang Zhen, Yan Fang, Qiu Houkuang, Wu Chunyan, Zhang Zhi
Abstract excerpt
We report a novel β-globin gene promoter mutation in a Chinese family identified using fluorescence resolution melting curve analysis and gene sequencing. The proband, who showed the phenotype of β-thalassemia intermedia (β-TI), was found to be a compound heterozygote for the novel mutation -25 (G>T) (HBB: c.-75G>T) and a codon 17 (HBB: c.52A>T) mutation. Moreover, conservation analysis using phyloP and phastCons...
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