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Related Experiment Video

Updated: Nov 5, 2025

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Predictive SNPs for β0-thalassemia/HbE disease severity.

Thongperm Munkongdee1,2, Sissades Tongsima3, Chumpol Ngamphiw3

  • 1Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Scientific Reports
|May 15, 2021
PubMed
Summary

Predicting beta-thalassemia/HbE disease severity is crucial. A three-SNP risk score, using rs766432, rs9399137, and rs72872548, accurately predicts clinical outcomes in Southeast Asian populations.

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Area of Science:

  • Genetics
  • Hematology
  • Genomic Medicine

Background:

  • Beta-thalassemia/HbE disease presents diverse clinical phenotypes, impacting management decisions.
  • Existing severity scores are based on Mediterranean populations, necessitating ethnic-specific models.
  • Predicting disease severity aids in clinical management and treatment strategies for beta-thalassemia/HbE.

Purpose of the Study:

  • To identify single nucleotide polymorphisms (SNPs) predictive of clinical severity in Thai beta-thalassemia/HbE patients.
  • To develop and validate a multi-SNP risk score for predicting disease severity in Southeast Asian populations.

Main Methods:

  • Genome-wide association studies (GWAS) data from 487 Thai patients were analyzed using the iLoci algorithm.
  • Three SNPs (rs766432, rs9399137, rs72872548) were identified through SNP interaction analysis.
  • The predictive score was validated in independent Thai and Malaysian cohorts.

Main Results:

  • A three-SNP risk score incorporating rs766432 (BCL11A), rs9399137 (HBS1L-MYB), and rs72872548 (HBE1) was developed.
  • The score demonstrated over 85% specificity and 75% accuracy in predicting disease severity.
  • Validation in independent cohorts confirmed comparable predictive performance.

Conclusions:

  • A novel three-SNP predictive score accurately assesses clinical severity in Southeast Asian beta-thalassemia/HbE patients.
  • This SNP risk score offers a valuable tool for personalized risk stratification and clinical management.
  • The findings highlight the importance of ethnic-specific genetic markers for predicting disease severity.