ArticleAmerican journal of translational research2024
Genotype analysis of 55,281 cases of thalassemia in northern Guangxi.
Article in American journal of translational research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, China.International journal of neonatal screening · 2026Article
- Thalassemia in Guangxi: current situation and future prospects.Frontiers in public health · 2026Article
- Current research status of third-generation sequencing technology in thalassemia detection.Frontiers in pediatrics · 2025Review
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6 authors.
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Abstract
objectiveTo understand the genotype and distribution of thalassemia in northern Guangxi.
methodsThe study subjects were 55,281 individuals who came to the Affiliated Hospital of Guilin Medical University for genetic diagnosis of thalassemia from January 2012 to August 2023. All of their household registration was in the precincts of Guibei District and its affiliated counties. Red blood cell parameters and hemoglobin analysis were used for thalassemia screening. Gap-PCR, PCR-reverse dot blot hybridization (PCR-RDB), and multicolor melting curve analysis (MMCA) were used to identify common thalassemia genes. Multiplex ligation-dependent probe amplification (MLPA), Sanger sequencing, and third-generation single-molecule real-time (SMRT) sequencing were employed to identify rare thalassemia genes.
resultsAmong the 55,281 samples, 16,442 (29.74%) were diagnosed with thalassemia. The detection rates of α, β, and α combined β-thalassemia were 18.57%, 9.99% and 1.18%, respectively. Among ethnical groups, allele mutation frequency of thalassemia was the highest in Zhuang (44.97%), followed by Yao (40.11%), Dong (31.33%), Han (29.85%), Miao (24.31%), and Hui (20.6%). A total of 11,659 alleles (21.09%) of 8 types of α-thalassemia were identified in 55,281 samples, primarily --
conclusionThe population in northern Guangxi exhibited rich ethnic diversity, with high allelic carrying rates among the Zhuang, Yao and Dong ethnic groups. Thalassemia gene mutations are diverse, encompassing a variety of gene types, with α thalassemia predominating, notably the --
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