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First Description of a β-Thalassemia Mutation, -86 (C > G) (HBB: c.-136C > G), in a Chinese Family


, : First Description of a β-Thalassemia Mutation, -86 (C > G) (HBB: c.-136C > G), in a Chinese Family. Hemoglobin 39(6): 448-450

We present the first description of a Chinese family with a β-thalassemia (β-thal) mutation -86 (C > G) (HBB: c.-136C > G). This mutation changes the conserved promoter sequence within the proximal CACCC box of the β-globin gene that leads to a phenotype of β(+)-thal. The β-globin haplotype analysis revealed that the -86 mutation in our case was linked with haplotype I [+ - - - - + +]. This haplotype was commonly found both in the β-thal mutation and the β(A) gene. Our results suggest that the -86 mutation possibly does not have a distinct origin.

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Accession: 057879674

PMID: 26291972

DOI: 10.3109/03630269.2015.1070734

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