A novel compound heterozygosity in Southern China: IVS-II-5 (G> C) and IVS-II-672 (A> C)

作者：Zhao, Lin; Qing, Jilin; Liang, Yue; Chen, Zhizhong^*

来源：Hemoglobin, 2016, 40(6): 428-430.

DOI：10.1080/03630269.2016.1252387

• beta-Thalassemia
• compound heterozygosity
• DNA
• point mutation
• sequence analysis

beta-Thalassemia (beta-thal) is a common hereditary anemia due to decreased or absent synthesis of the b-globin chains.Here, we report a patient found to be a novel compound heterozygote for the rare IVS-II-5 (G> C) (NG_ 000007.3: g.71044G> C) and IVS-II-672 (A> C) (NG_ 000007.3: g.71711A> C) mutations, which may be silent mutations that are associated with consistent residual output of b chains, normal red blood cell (RBC) indices and normal or borderline Hb A(2) levels.

• 出版日期2016
• 单位广西壮族自治区人民医院