ArticleJournal of clinical laboratory analysis2019
Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China.
Article in Journal of clinical laboratory analysis, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 53 citations in OpenAlex.
- Comparing traditional and NGS-based screening strategies for thalassemia in a high-prevalence Hakka population: a population-based study.Scientific reports · 2026Article
- Performance of the automated DNA extraction with MagNA Pure 24 for further genetic testing for hemoglobinopathies with Globin StripAssays.Wiener klinische Wochenschrift · 2026Article
- Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.International journal of molecular sciences · 2026Review
- Genotypic distribution and molecular spectrum of rare and novel thalassemia variants in Ganzhou, southern China.Frontiers in molecular biosciences · 2026Article
- Beyond transfusions and transplants: genomic innovations rewriting the narrative of thalassemia.Annals of hematology · 2025Review
- Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.Annals of hematology · 2025Article
- Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis.Archives of public health = Archives belges de sante publique · 2025Article
- First clinical and pedigree study of rare HBB: c.316-90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.Annals of hematology · 2025Article
- Global Globin Network and adopting genomic variant database requirements for thalassemia.Database : the journal of biological databases and curation · 2024Article
- Prevalence of thalassemia-carrier couples and fertility risk assessment.International journal of hematology · 2024Article
- Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2024Article
- A particular focus on the prevalence of α-thalassemia and β-thalassemia among pregnant women in Changsha County, Hunan Province.Frontiers in genetics · 2024Article
- Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China.Human genomics · 2023Article
- Diagnosis of α-thalassaemia by colorimetric gap loop mediated isothermal amplification.Scientific reports · 2023Article
- Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.Diagnostics (Basel, Switzerland) · 2023Article
- Molecular Basis and Genetic Modifiers of Thalassemia.Hematology/oncology clinics of North America · 2023Review
- Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing.Frontiers in genetics · 2023Article
- Detection of maternal carriers of common α-thalassemia deletions from cell-free DNA.Scientific reports · 2022Article
- Characterization of a novel HBB:c.194dup variant of theThe Journal of international medical research · 2022Article
- Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review.Frontiers in pediatrics · 2022Review
Corrections and comments
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Authors and funding
18 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesThalassemia is a highly prevalent monogenic inherited disease in southern China. It is important to collect epidemiological data comprehensively for proper prevention and treatment.
methodsIn 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.
resultsIn 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.
conclusionsOur 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.
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