Article
Hb H Disease Caused by Multiple Mutations in the Polyadenylation Signal Site and - -SEA/αα.
Hemoglobin - 1 May 2017
Zhang Qiang, Fan Xin, Xu Mingli, Zhang Yijia, Xu Huiling, Wen Xiaojun, Zhou Wanjun
Abstract excerpt
Thalassemia is the most common monogenic disease, with the highest incidence in Guangxi Zhuang Autonomous Region, People's Republic of China (PRC). The blood test result was not consistent with α-globin gene testing in one of the patients during daily screening. It was confirmed that there were multiple mutations at the α2-globin gene polyadenylation (polyA) signal site: HBA2: c.*64(T>C), HBA2: c.*68(A>C), HBA2:...
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