Article
A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.
American journal of human genetics - 6 Jul 2017
Chen Diyu, Zuo Yangjin, Zhang Xinhua, Ye Yuhua, Bao Xiuqin, Huang Haiyan, Tepakhan Wanicha, Wang Lijuan, Ju Junyi, Chen Guangfu, Zheng Mincui, Liu Dun, Huang Shuodan, Zong Lu, Li Changgang, Chen Yajun, Zheng Chenguang, Shi Lihong, Zhao Quan, Wu Qiang, Fucharoen Supan, Zhao Cunyou, Xu Xiangmin
Abstract excerpt
A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese...
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