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August 2, 2026Cellular Physiology and BiochemistryOpen Access

Genotype–Phenotype Correlation of Β-Globin Mutations and Hematological Parameters in Iraqi Β-Thalassemia Patients

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Authors

HJHamsa Ahmed JasimUniversity of BaghdadHMHind Adnan MohammedUniversity of BaghdadRARaghda Al-OmairiUniversity of Baghdad

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Implication

Cross-sectional study evaluates genotype-phenotype correlation in Iraqi β-thalassemia patients, suggesting additional modifiers may exist.

Key Points

  • The study investigates the correlation between β-globin mutations and hematological parameters in Iraqi β-thalassemia patients.
  • Cross-sectional study conducted from September to November 2025 at the University of Baghdad
  • Analyzed hematological parameters, HbA₂ and HbF levels, serum iron and ferritin concentrations, and β-globin gene mutations
  • Used amplification refractory mutation system polymerase chain reaction (ARMS-PCR) for mutation screening
  • Patients exhibited a microcytic, hypochromic hematological profile with a mean hemoglobin concentration of 11.1 g/dL
  • β-globin mutations were identified in 68.2% of patients, with IVS-I-6 being the most frequent (45.5%)
  • No significant genotype-phenotype associations were found for most clinical variables, indicating potential additional modifiers.

Cite This Study

Jasim et al. (2026) studied this question.

synapsesocial.com/papers/6a6eeb2c1b0468a7eeab426dhttps://doi.org/10.33594/000000879
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Also Consider

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

  1. 1Genetic variations and clinical implications of B-thalassemia in Iraqi population2026 · 2 citations
  2. 2Clinical and Laboratory Parameters in Iraqi Alpha‐Thalassemia Pediatric Patients With Different Genetic Profiles, Basrah, Iraq: A Single‐Center Study2025
  3. 3MOLECULAR PATHOLOGY OF Β-THALASSEMIA: CLINICOGENETIC EVALUATION OF HBB GENE MUTATIONS IN AFFECTED POPULATIONS: A CROSS-SECTIONAL STUDY2025
  4. 4Beta-Globin (HBB) Mutations and Catalase Gene Polymorphisms in Beta-Thalassemia Major Patients in Al-Diwaniyah, Iraq2026
  5. 5Assessing the impact of HBB gene polymorphisms on the risk of beta thalassemia in the population of Diyala Governorate, Iraq2024