alpha(+)-Thalassemia Caused by an 811bp Deletion in Individuals from Nanning, Guangxi: A Report of Two Cases

作者：Zhang, Qiang; Xu, Mingli; Zhou, Wanjun; Fan, Xin^*

来源：Hemoglobin, 2017, 41(3): 185-188.

DOI：10.1080/03630269.2017.1371035

• alpha(+)-Thalassemia (alpha(+)-thal)
• novel deletion
• thalassemia

A novel 811bp deletion was first identified in two families of Nanning City, Guangxi Zhuang Autonomous Region, People's Republic of China (PRC). The molecular basis of this anomaly is a deletion from NG_000006.1: g.32945_33755, and is 20bp upstream of the translation initiation codon of HBA2. From analyses of the blood indices of the two probands, the 811bp deletion is an alpha(+)-thalassemia (alpha(+)-thal). This is the first report of this deletional thalassemia anywhere in the world.

• 出版日期2017
• 单位南方医科大学; 广西壮族自治区妇幼保健院