Cao Jinru, He Shuzhen, Pu Yudong, Liu Jingjing, Liu Fuping, Feng Jun
a Prenatal Diagnosis Center, The Third People's Hospital of Dongguan City , Guangdong Province , People's Republic of China.
b Yaneng BIOscience (Shenzhen) Co. Ltd. , Shenzhen , Guandong Province , People's Republic of China.
Hemoglobin. 2017 Jul-Nov;41(4-6):243-247. doi: 10.1080/03630269.2017.1374968. Epub 2017 Nov 10.
α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical and subtropical regions of the world. Here, we report for the first time, a novel large α-thal deletion in a Chinese family from Jiangsu Province, People's Republic of China (PRC), which removes almost the entire α2 and α1 genes from the α-globin gene cluster. Thus, it was named the Jiangsu deletion (- -) on the α-globin gene cluster causing α-thal. Heterozygotes for this deletion showed an α-thal trait phenotype with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) levels. The sequencing results showed that a 2538 bp deletion (NG_000006.1: g.35801_38338) existed in this novel genotype on the basis of -α (leftward), indicating a deletion of about 6.8 kb from the α-globin cluster. In addition, a 29 bp sequence was inserted into the deletion during the recombination events that led to this deletion. Through pedigree analysis, we knew that the proband inherited the novel allele from his mother.
α地中海贫血（α-thal）是一种非常常见的单基因遗传性疾病，由世界热带和亚热带地区α珠蛋白基因簇的大片段缺失或点突变引起。在此，我们首次报道了来自中华人民共和国江苏省一个中国家庭中的一种新型大片段α地中海贫血缺失，该缺失几乎从α珠蛋白基因簇中移除了整个α2和α1基因。因此，它被命名为α珠蛋白基因簇上导致α地中海贫血的江苏缺失（--）。该缺失的杂合子表现出α地中海贫血特征性表型，平均红细胞体积（MCV）和平均红细胞血红蛋白（Hb）（MCH）水平降低。测序结果显示，在基于-α（向左）的这种新型基因型中存在一个2538 bp的缺失（NG_000006.1: g.35801_38338），表明从α珠蛋白簇中缺失了约6.8 kb。此外，在导致该缺失的重组事件中，一个29 bp的序列插入到了缺失区域。通过系谱分析，我们得知先证者从其母亲那里继承了这个新的等位基因。
