Tan Mei, Bai Yue, Zhang Xiangmei, Sun Jian, Huang Chengshuang, Tian Runmei, Yang Yuhang, Luo Xi, Su Qiong, Wu Liusong, Zheng Libo, Xia Jing, Murong Hongmei, Zhu Ping, Yang Fan, Zhong Xiaosong, Chen Jindong, Chen Yan
Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, China.
The Clinical Center of Gene and Cell Engineering, Capital Medical University Affiliated Shiji Tan Hospital, Beijing, China.
Clin Genet. 2021 May;99(5):704-712. doi: 10.1111/cge.13923. Epub 2021 Mar 9.
Thalassemia is a common monogenic disease in southwestern China, especially in Guizhou province. In this study, 18 309 neonates were examined for thalassemia. The thalassemia carrier rate was 12.90%, which is associated with geographical regions, with carrier frequencies significantly differing between regions (p < 0.0001). The carrier rates for α-thalassemia and β-thalassemia were 8.91% and 3.36%, respectively. There are 22 genotypes identified among 1632 α-thalassemia cases, and 18 genotypes detected among 615 β-thalassemia cases. The birthrates of individuals with intermediate thalassemia and β-thalassemia major were 0.153% and 0.055%, respectively. Methodologically, NGS-Gap-PCR is superior to traditional detection methods, with 65 more cases detected by NGS-Gap-PCR. Since thalassemia-rich genotypes were highly prevalent in this region, early detection of thalassemia carriers would be meaningful for genetic counseling and prevention/treatment of thalassemia. NGS-Gap-PCR provides a powerful tool for neonate genetic testing and clinical diagnosis of thalassemia, especially in high-prevalence regions.
地中海贫血是中国西南部尤其是贵州省常见的单基因疾病。在本研究中，对18309名新生儿进行了地中海贫血检测。地中海贫血携带率为12.90%，这与地理区域有关，不同区域的携带频率存在显著差异（p<0.0001）。α地中海贫血和β地中海贫血的携带率分别为8.91%和3.36%。在1632例α地中海贫血病例中鉴定出22种基因型，在615例β地中海贫血病例中检测到18种基因型。中间型地中海贫血和重型β地中海贫血患者的出生率分别为0.153%和0.055%。在方法上，二代测序-缺口聚合酶链反应（NGS-Gap-PCR）优于传统检测方法，NGS-Gap-PCR多检测出65例病例。由于该地区富含地中海贫血的基因型高度流行，早期检测地中海贫血携带者对遗传咨询和地中海贫血的预防/治疗具有重要意义。NGS-Gap-PCR为新生儿地中海贫血基因检测和临床诊断提供了有力工具，尤其是在高流行地区。
