ArticleHeliyon2024
Genotype-phenotype correlation analysis of patients with thalassemia in quanzhou city, southeast of China.
Article in Heliyon, 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.
- Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment.Journal of clinical laboratory analysis · 2026Review
- 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
- Association between red blood cell distribution width-to-albumin ratio and risk of low lean mass: A cross-sectional study of NHANES 1999-2018.Science progressArticle
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Authors and funding
5 authors.
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Abstract
Background: The carrying rate of thalassemia is high in Quanzhou city. However, there are few large-scale studies on the correlation analysis between genotype and phenotype of thalassemia in Quanzhou. In this study, the genotype and phenotype data of 1076 individuals with thalassemia in Quanzhou city were analyzed to provide reference data for screening and diagnosis of thalassemia in this region. Material and methods: Reverse dot blot hybridization (RDB-PCR), Gap-PCR and nested PCR were used to detect the thalassemia genotype. Clinical and hematological parameters of 1076 individuals of thalassemia were collected to analyze the correlation between genotype and phenotype. Results: Among 2997 subjects, 1076 cases diagnosed as thalassemia gene carrier or patients, with detection rate 35.9 %, among which Southeast Asian deletion (-- Conclusion: The difference of hematological phenotypes in patients with thalassemia is not only affected by their genotype, but also the influence of gender and age.
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