Zhang Qiang, Xu Mingli, Zhou Wanjun, Fan Xin
a Department of Genetic Metabolism , Prenatal Diagnostic Center, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region , Nanning , Guangxi Zhuang Autonomous Region , People's Republic of China.
b Department of Medical Genetics , School of Basic Medical Sciences, Southern Medical University , Guangzhou , Guangdong Province , People's Republic of China.
Hemoglobin. 2017 May;41(3):185-188. doi: 10.1080/03630269.2017.1371035.
A novel 811 bp 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 20 bp upstream of the translation initiation codon of HBA2. From analyses of the blood indices of the two probands, the 811 bp deletion is an α-thalassemia (α-thal). This is the first report of this deletional thalassemia anywhere in the world.
在中国广西壮族自治区南宁市的两个家族中首次发现了一种新的811 bp缺失。这种异常的分子基础是NG_000006.1: g.32945_33755的缺失，位于HBA2翻译起始密码子上游20 bp处。通过对两名先证者血液指标的分析，该811 bp缺失为α地中海贫血（α-地贫）。这是世界上首次报道这种缺失型地中海贫血。
