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December 8, 2025Blood

Epidemiological and molecular analysis of thalassemia (Beta Globin Gene) in the heterogeneous population of gwadar, Pakistan

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Authors

NANatasha AliAMAfsar MianJKJahangir Khan

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Overview

Epidemiological study finds high prevalence of Beta-thalassemia and related complications in Gwadar, highlighting urgent need for genetic screening and infection control.

Key Points

  • This research investigates the prevalence and molecular characteristics of Beta-thalassemia in Gwadar, Pakistan.
  • Data collected from 278 thalassemia patients at Hope Foundation and DHQ hospital.
  • Clinical details and consanguinity were assessed alongside blood transfusion frequency.
  • DNA was extracted, followed by PCR and Sanger sequencing to identify mutation variants.
  • Clinical assessments highlighted hormonal abnormalities and high infection rates, including 20 Hepatitis C and 7 HIV positive patients.
  • Key mutations identified included IVS-I-5 and c.47G>A, linked to transfusion dependency.
  • Eighteen percent of patients succumbed to severe complications, underscoring a critical need for enhanced care.

Cite This Study

Ali et al. (2025) studied this question.

synapsesocial.com/papers/69362f574fa91c937236dac9https://doi.org/10.1182/blood-2025-4672
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Also Consider

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

  1. 1Descriptive Epidemiology And Clinical Attributes Of Beta-Thalassemia In Upper Sindh Region Of Pakistan2025
  2. 2Genetic Profiling and frequencies of Modifiers in Transfusion-Dependent Thalassemia2025
  3. 3Founder effects and consanguinity shape beta-thalassemia genetics: A five-year hospital-based cohort study from Pakistan2025
  4. 4Investigate the Mortality, Morbidity and Factors Associate in Thalassemia Patients in Faisalabad, Pakistan2025
  5. 5Molecular Biomarkers for Prenatal Diagnosis of Beta-Thalassemia at Hyderabad Sindh2023