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December 8, 2025BloodOpen Access

Founder effects and consanguinity shape beta-thalassemia genetics: A five-year hospital-based cohort study from Pakistan

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Authors

HKHamid KhanInternational Islamic University, IslamabadMSMuhammad Shariq ShaikhAga Khan University Hospital

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Implication

Cohort study identifies founder effects and zygosity patterns in beta-thalassemia, suggesting novel treatment avenues.

Key Points

  • This research aims to explore the genetic factors influencing beta-thalassemia in Pakistan, focusing on founder effects and consanguinity.
  • Prospective hospital-based cohort study conducted in Pakistan from 2021 to 2025
  • Analyzed samples using comprehensive HBB gene sequencing with over 100x coverage
  • Utilized GATK pipeline for variant calling and classified variants by zygosity
  • 1,269 (59.7%) homozygous, 428 (20.2%) compound heterozygous, and 427 (20.1%) heterozygous variants identified
  • Five variants accounted for over 80% of severe cases
  • Discovered 13 novel compound heterozygous combinations, expanding the known mutation spectrum

Cite This Study

Khan et al. (2025) studied this question.

synapsesocial.com/papers/69362f634fa91c937236dde0https://doi.org/10.1182/blood-2025-2920
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1High prevalence and molecular spectrum of β-thalassemia trait in Haripur and Abbottabad districts of Pakistan: implications for regional carrier screening programs2025 · 4 citations
  2. 2Molecular Characterization of HBB Gene Variations in Beta-Thalassemia Patients from Khyber Pakhtunkhwa, Pakistan2026
  3. 3Genetic Profiling and frequencies of Modifiers in Transfusion-Dependent Thalassemia2025
  4. 4Epidemiological and molecular analysis of thalassemia (Beta Globin Gene) in the heterogeneous population of gwadar, Pakistan2025
  5. 5MOLECULAR PATHOLOGY OF Β-THALASSEMIA: CLINICOGENETIC EVALUATION OF HBB GENE MUTATIONS IN AFFECTED POPULATIONS: A CROSS-SECTIONAL STUDY2025