ArticleHuman genomics2023
Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China.
Article in Human genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 17 citations in OpenAlex.
- The shifting global thalassemia burden and lessons from Chineseintegrated control strategy.iScience · 2026Article
- Comparing traditional and NGS-based screening strategies for thalassemia in a high-prevalence Hakka population: a population-based study.Scientific reports · 2026Article
- Establishment of an immortalized erythroid model for Hb Bart's hydrops fetalis with homozygous αScientific reports · 2026Article
- Application of targeted sequencing in the molecular diagnosis of thalassemia in Southern China.Scientific reports · 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
- Third-generation sequencing technology in the prevention and control of thalassemia: Applications and advances.The Journal of international medical research · 2026Review
- Genotypic distribution and molecular spectrum of rare and novel thalassemia variants in Ganzhou, southern China.Frontiers in molecular biosciences · 2026Article
- The diagnosis and clinical characterization of -α3.7/--SEA thalassemia patients: two cases report.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
- Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.Molecular genetics & genomic medicine · 2025Article
- Molecular identification and phenotypic study of a novelFrontiers in medicine · 2025Article
- Application of third-generation sequencing technology in the genetic testing of thalassemia.Molecular cytogenetics · 2024Review
- Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.BMC medical genomics · 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
- Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.Frontiers in genetics · 2024Article
- Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing.Frontiers in genetics · 2023Article
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Authors and funding
12 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThalassemia is an extremely prevalent monogenic inherited blood disorder in southern China. It is important to comprehensively understand the molecular spectrum of thalassemia in an area with such a high prevalence of thalassemia before taking appropriate actions for the prevention and treatment of this disorder. Herein, we explored the clinical feasibility of using next-generation sequencing (NGS) for large-scale population screening to illustrate the prevalence and spectrum of thalassemia in Southern Jiangxi.
methodsBlood samples collected from 136,312 residents of reproductive age in Southern Jiangxi were characterized for thalassemia by NGS. A retrospective analysis was then conducted on blood samples determined to be positive for thalassemia.
resultsIn total, 19,827 (14.545%) subjects were diagnosed as thalassemia carriers, and the thalassemia prevalence rate significantly varied by geographical region (p < 0.001). A total of 40 α-thalassemia genotypes including 21 rare genotypes were identified, with -@-
conclusionsOur findings demonstrate the great heterogeneity and diverse spectrum of thalassemia in Southern Jiangxi, emphasizing the importance and necessity of persistent prevention and control of thalassemia in this region. Additionally, our findings further suggest that NGS can effectively identify rare mutations and reduce the misdiagnosis rate of thalassemia.
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