ArticleFrontiers in genetics2023
Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing.
Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Identification of a novel hereditary spherocytosis gene mutation in a Chinese child with α-globin gene triplication.MedScience · 2026Article
- Clinical phenotypic heterogeneity in pediatric-thalassemia carriers co-inherited with-globin gene triplication.Annals of hematology · 2026Article
- First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third generation sequencing.Annals of hematology · 2026Article
- Genotypic distribution and molecular spectrum of rare and novel thalassemia variants in Ganzhou, southern China.Frontiers in molecular biosciences · 2026Article
- Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.Human genomics · 2025Article
- Catalog of 73 novel variants in thalassemia: discoveries and insights.Human molecular genetics · 2025Article
- Article
- Molecular identification and phenotypic study of a novelFrontiers in medicine · 2025Article
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15 authors at 3 institutions in 1 country.
Funding
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Abstract
α-globin gene triplication carriers were not anemic in general, while some studies found that α-globin gene triplication coinherited with heterozygous β-thalassemia may cause adverse clinical symptoms, which yet lacks sufficient evidence in large populations. In this study, we investigated the prevalence and distribution of α-globin gene triplication as well as the phenotypic characteristics of α-globin gene triplication coinherited with heterozygous β-thalassemia in Ganzhou city, southern China. During 2021-2022, a total of 73,967 random individuals who received routine health examinations before marriage were genotyped for globin gene mutations by high-throughput sequencing. Among them, 1,443 were α-globin gene triplication carriers, with a carrier rate of 1.95%. The most prevalent mutation was ααα
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