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September 17, 2025International Journal of Molecular SciencesOpen Access

Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants

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Authors

KSKritsada SinghaAPAnupong PansuwanGFGoonnapa Fucharoen

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Overview

Retrospective analysis reveals genotype-phenotype correlations in β-globin variants, suggesting implications for genetic counseling and thalassemia management.

Key Points

  • The study identifies seven β-globin gene variants and their phenotype associations in a large cohort.
  • Retrospective analysis involved 45,914 subjects and confirmed phenotypic expressions of variants across normal individuals.
  • PCR-based methods were utilized to examine the whole β-globin and KLF1 genes for variant identification.
  • The findings emphasize the importance of accurate variant classification for effective genetic counseling in thalassemia.

Cite This Study

Singha et al. (2025) studied this question.

synapsesocial.com/papers/68d4604731b076d99fa5f90chttps://doi.org/10.3390/ijms26188872
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Also Consider

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  5. 5First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third generation sequencing2026