ArticleAnnals of medicine2025
Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.
Article in Annals of medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Third-generation sequencing technology in the prevention and control of thalassemia: Applications and advances.The Journal of international medical research · 2026Review
- Cord blood-based neonatal genetic screening for thalassemia in Guiyang, China (2015): a cross-sectional study.Frontiers in genetics · 2026Article
- High proportions of iron deficiency and thalassemia in blood donors with low RBC osmotic fragility: a call for targeted public health responses in Southern China.Frontiers in public health · 2026Article
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12 authors.
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Abstract
backgroundThalassemia, a prevalent monogenic inherited disorder, represents a significant public health concern in southern China. This comprehensive study retrospectively analysed prenatal diagnostic data for thalassemia over an 11-year period in Guangdong Province, a high-prevalence region in southern China.
methodsPrenatal diagnosis (PND) of thalassemia was performed on 22,127 foetuses from at-risk pregnancies, following standardized protocols for invasive sampling, foetal sample collection and laboratory processing. Thalassemia mutations were identified using PCR-based molecular techniques.
resultsThe analysis revealed that 16,812 cases (75.98%) were diagnosed with thalassemia, including 12,636 cases (57.11%) identified as α-thalassemia, 3961 cases (17.90%) as β-thalassemia and 215 cases (0.97%) as co-inheritance of α- and β-thalassemia. Among these, 5769 cases (26.08%) were diagnosed with intermedia or severe thalassemia genotypes, of which 2593 underwent pregnancy termination. Additionally, our study detected 275 cases of rare thalassemia variants. The retrospective analysis encompassed critical aspects including the timing of PND, genotype spectrum and rare variant identification, complemented by a synthesis of clinical practice insights.
conclusionsThis large-scale study provides substantial epidemiological data and clinical insights that significantly contribute to the enhancement of thalassemia prevention and control strategies in Guangdong Province.
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