中国一个家庭中Hb Q-泰国型与α和β地中海贫血的复杂相互作用
Complex Interaction of Hb Q-Thailand with α- and β-Thalassemia in a Chinese Family.
作者信息
He Sheng, Qin Qian, Lin Li, Chen Qiuli, Yi Shang, Wei Honhwei, Du Juan, Zheng Chenguang, Qiu Xiaoxia, Chen Biyan
机构信息
a Prenatal Diagnostic Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi , People's Republic of China.
b Prenatal Diagnostic Center , Baise Women and Children Care Hospital , Baise , Guangxi , People's Republic of China.
出版信息
Hemoglobin. 2017 Jan;41(1):68-72. doi: 10.1080/03630269.2017.1295985. Epub 2017 May 5.
Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223 G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α-thalassemia (α-thal) and in combination with β-thalassemia (β-thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies.
血红蛋白Q-泰国型[α74(EF3)天冬氨酸→组氨酸(α1); HBA1: c.223 G>C]是一种异常血红蛋白(Hb)变异体，主要在中国和东南亚国家发现。α-泰国型等位基因与其他珠蛋白基因疾病的关联在诊断中具有重要意义。在此，我们报告了一个中国家庭中，一名患者同时存在血红蛋白Q-泰国型与α地中海贫血(α-地贫)以及β地中海贫血(β-地贫)的双重杂合子状态，这一情况此前尚未见报道。我们的研究将为复杂血红蛋白病提供一些临床表现、实验室诊断及遗传咨询。
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