He Sheng, Qin Qian, Lin Li, Zuo Yangjin, Chen Qiuli, Wei Honghwei, Zheng Chenguang, Chen Biyan, Qiu Xiaoxia
a Prenatal Diagnostic Center, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, Guangxi Zhuang Autonomous Region , People's Republic of China.
b Prenatal Diagnostic Centre, Baise Women and Children Care Hospital, Baise, Guangxi Zhuang Autonomous Region , People's Republic of China.
Hemoglobin. 2018 Jul;42(4):272-275. doi: 10.1080/03630269.2018.1531018. Epub 2019 Jan 7.
β-Thalassemia (β-thal) is one of the most common autosomal recessive disorders worldwide. It is caused mainly by point mutations or, more rarely, deletions on the β-globin gene, leading to reduced (β) or absent (β) synthesis of the β chains of hemoglobin (Hb). Molecular characterization of β-thal is essential for the prevention of this disease in the population. In China, more than 46 different mutations have been found, while approximately five large deletional types of β-thal have been reported. Here we described a large deletional mutation of the β-globin gene cluster previously unreported in the Chinese population, the 3.5 kb deletion (NC_000011.10: g.5224302-5227791del3490bp) removing the β-globin gene promoter and the whole β-globin gene leading to a β-thal phenotype.
β地中海贫血（β-thal）是全球最常见的常染色体隐性疾病之一。它主要由β珠蛋白基因突变引起，更罕见的情况是由β珠蛋白基因缺失导致，进而致使血红蛋白（Hb）β链的合成减少（β+）或缺失（β0）。β地中海贫血的分子特征对于人群中该疾病的预防至关重要。在中国，已发现46种以上不同的突变，同时报道了约5种大的β地中海贫血缺失类型。在此，我们描述了一种先前在中国人群中未报道过的β珠蛋白基因簇的大缺失突变，即3.5 kb缺失（NC_000011.10: g.5224302 - 5227791del3490bp），该缺失移除了β珠蛋白基因启动子和整个β珠蛋白基因，导致β地中海贫血表型。
