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September 17, 2025Open Access

Molecular Pathology of Β-Thalassemia: Clinicogenetic Evaluation of HBB Gene Mutations in Affected Populations: A Cross-Sectional Study

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Authors

AKAreej KhanUniversity of SindhMAMuhammad Shakaib AkramUniversity of EssexKBKeyu BaiAlliance Bioversity International - CIAT

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Overview

Cross-sectional study evaluates HBB gene mutations linked to clinical phenotypes in beta-thalassemia, suggesting implications for genetic counseling.

Key Points

  • Patients with beta-thalassemia major show significantly earlier diagnosis and greater complications than those with intermediate.
  • The study identified homozygous IVS-I-5 as a key mutation, correlated with increased transfusion dependence rates.
  • Clinicogenetic data reveal important patterns of HBB mutations in relation to clinical outcomes and interventions.
  • Understanding mutation interactions enhances prognosis and supports targeted screening in populations at high risk.

Cite This Study

Khan et al. (2025) studied this question.

synapsesocial.com/papers/68d45e6a31b076d99fa5f1abhttps://doi.org/10.71000/6yycfk04
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Also Consider

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

  1. 1Mutation Analysis of Exon 1 in the Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia2024 · 1 citations
  2. 2Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of <i>HBB</i> : C.84_85insC and Common Linked Intronic Variants in <i>HBB</i>2025
  3. 3Genotype–Phenotype Correlation of Β-Globin Mutations and Hematological Parameters in Iraqi Β-Thalassemia Patients2026
  4. 4The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian Experience2024 · 1 citations
  5. 5An Immunological and Molecular Study to Investigate the Genes (β-globin and HBA1F) in Patients with Thalassemia in Najaf Governorate2024 · 1 citations