Next‐generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China

Objectives Thalassemia is a highly prevalent monogenic inherited disease in southern China. It is important to collect epidemiological data comprehensively for proper prevention and treatment. Methods In this study, blood samples collected from 15 807 residents of Chenzhou were primarily screened by...

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Vydané v:	Journal of clinical laboratory analysis Ročník 33; číslo 4; s. e22845 - n/a
Hlavní autori:	Zhang, Haoqing, Li, Caiyun, Li, Jianbiao, Hou, Shuai, Chen, Danjing, Yan, Haiying, Chen, Shiping, Liu, Saijun, Yin, Zhenzhen, Yang, Xiaoqin, Tan, Jufang, Huang, Xiaoyan, Zhang, Liming, Fang, Junbin, Zhang, Caifen, Li, Wei, Guo, Jian, Lei, Dongzhu
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States John Wiley & Sons, Inc 01.05.2019 John Wiley and Sons Inc
Predmet:	Adolescent Adult alpha-Thalassemia - epidemiology alpha-Thalassemia - genetics beta-Thalassemia - epidemiology beta-Thalassemia - genetics Child Child, Preschool China - epidemiology Epidemiology Female Genetic analysis Genetic Carrier Screening Hemoglobin Hemoglobins, Abnormal - genetics Hereditary diseases High-Throughput Nucleotide Sequencing Humans Infant Male Middle Aged Molecular Epidemiology Mutation next‐generation sequencing Polymerase Chain Reaction - methods prevalence Thalassemia variant Young Adult China variant mutation prevalence thalassemia next-generation sequencing
ISSN:	0887-8013, 1098-2825, 1098-2825
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Shrnutí:	Objectives Thalassemia is a highly prevalent monogenic inherited disease in southern China. It is important to collect epidemiological data comprehensively for proper prevention and treatment. Methods In this study, blood samples collected from 15 807 residents of Chenzhou were primarily screened by hematological tests. A total of 3973 samples of suspected thalassemia carriers were further characterized by combined next‐generation sequencing (NGS) and Gap‐PCR. Results In total, 1704 subjects were diagnosed as thalassemia carriers with a total prevalence rate of 10.78%, including 943 α‐thalassemia carriers, 708 β‐thalassemia carriers, and 53 composite α and β‐thalassemia carriers. The prevalence rates of α‐thalassemia, β‐thalassemia, and composite α and β‐thalassemia were 5.97%, 4.48%, and 0.34%, respectively. Meanwhile, we characterized 19 α‐thalassemia variations and 21 β‐thalassemia variations in thalassemia carriers. Approximately 2.88% of thalassemia carriers would be missed by traditional genetic analysis. In addition, four novel thalassemia mutations and one novel abnormal hemoglobin mutation were identified. Conclusions Our data suggest a high prevalence of thalassemia and a diverse spectrum of thalassemia‐associated variations in Chenzhou. Also, combined NGS and Gap‐PCR is an effective thalassemia screening method. Our findings might be helpful for prevention and treatment of thalassemia in this region.
Bibliografia:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Haoqing Zhang, Caiyun Li, and Jianbiao Li contributed equally to this work.
ISSN:	0887-8013 1098-2825 1098-2825
DOI:	10.1002/jcla.22845