ArticleFrontiers in pediatrics2023
Genotypic spectrum of α-thalassemia and β-thalassemia in newborns of the Li minority in Hainan province, China.
Article in Frontiers in pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 3 citations in OpenAlex.
- An Integrated Genotyping Strategy for α/β-Thalassemia: Based on the Analysis of the Coding Sequences and Expression Levels of HBA2, HBA1, and HBB in Peripheral Blood mRNA.Journal of clinical laboratory analysis · 2026Article
- Cord blood-based neonatal genetic screening for thalassemia in Guiyang, China (2015): a cross-sectional study.Frontiers in genetics · 2026Article
- A comparative study of SNPscan/CNVplex assay and routine PCR in genetic analysis of thalassemia.Frontiers in genetics · 2026Article
- Genotypic distribution and molecular spectrum of rare and novel thalassemia variants in Ganzhou, southern China.Frontiers in molecular biosciences · 2026Article
- The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.Orphanet journal of rare diseases · 2025Article
- Genotype analysis of 55,281 cases of thalassemia in northern Guangxi.American journal of translational research · 2024Article
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6 authors at 3 institutions in 1 country.
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Abstract
Purpose: To explore the genotypes and allele frequencies of α, β and α+β thalassemias in Li minorities, which resided in Hainan Province of China for a long time. Methods: In the present study, 1,438 newborns of the Li minority were collected from January 2020 to April 2021. The genotypes of thalassemia were detected by fluorescence PCR and verified by flow-through hybridization PCR analyses. Rare genotypes were detected by restriction fragment length polymorphism electrophoresis and Sanger DNA sequencing. Results: Among 1,438 participants, 1,024 (71.2%) were diagnosed with any kind of thalassemia. Among all thalassemia carriers, 902 (88.09%) subjects were diagnosed with α-thalassemia, and 18 subtypes of α-thalassemia were detected, with the top three genotypes being -α Conclusion: Newborns of Li have a higher prevalence of thalassemia for a long period, and further education on the impact of thalassemia, follow-up studies of the clinical manifestation and treatment and proper intervention methods should be designed to reduce the burden of thalassemia and enhance the quality of life in Li newborns.
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