ArticleMolecular biology reports2025
The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort.
Article in Molecular biology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Application of targeted sequencing in the molecular diagnosis of thalassemia in Southern China.Scientific reports · 2026Article
- Current research status of third-generation sequencing technology in thalassemia detection.Frontiers in pediatrics · 2025Review
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9 authors.
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Abstract
objectiveThe 1357 bp deletion is a rare type of β-thalassemia, and the literature on its characterization is very limited. This study aimed to conduct molecular diagnosis and clinical analysis of a 1357 bp deletion in the Guangxi cohort.
methodsThis was a retrospective study in which all samples with Hb F > 5% and/or Hb A
resultsA cohort of 65 individuals was analyzed, revealing heterozygous β-thalassemia/HPFH/δβ-thalassemia in 83.1% (54/65) of cases. Among these, 37.0% (20/54) carried the 1357 bp deletion, 46.3% (25/54) exhibited Chinese
conclusionThis study provides the first comprehensive characterization of the 1357 bp deletion, delineating its hematological profiles, molecular features, and region-specific prevalence patterns within the Guangxi Region. Accurate identification of molecular defects through phenotype-genotype correlation is important for genetic counseling and prenatal diagnosis.
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