Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
September 10, 2025Pakistan Journal of Medical SciencesOpen Access

Genetic Profiling and frequencies of Modifiers in Transfusion-Dependent Thalassemia

View Full Paper
Ask AI
Bookmark
Share

Authors

GSGulrukh SohailKhyber Teaching HospitalATAbid Sohail TajNorthwest General Hospital and Research CenterANArshi NazLiaquat University of Medical & Health Sciences

Discussion

Loading...

Member takes

Overview

Descriptive cross-sectional study identifies genetic modifiers and associating polymorphisms in TDT patients, suggesting tailored treatments.

Key Points

  • Most transfusion-dependent thalassemia patients had co-existing genetic modifiers, leading to milder disease phenotypes.
  • 38 patients exhibited BCL11A polymorphisms, while 11 had α-thalassemia deletions, underscoring genetic complexity.
  • This descriptive cross-sectional study analyzed genetic factors in 54 TDT patients from Peshawar over six months.
  • The findings highlight the importance of genetic screening for improved management of thalassemia in affected children.

Cite This Study

Sohail et al. (2025) studied this question.

synapsesocial.com/papers/68c18c019b7b07f3a06143eahttps://doi.org/10.12669/pjms.41.9.11571
View Full Paper
Ask AI
Bookmark
Share

Also Consider

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

  1. 1MOLECULAR PATHOLOGY OF Β-THALASSEMIA: CLINICOGENETIC EVALUATION OF HBB GENE MUTATIONS IN AFFECTED POPULATIONS: A CROSS-SECTIONAL STUDY2025
  2. 2Molecular Biomarkers for Prenatal Diagnosis of Beta-Thalassemia at Hyderabad Sindh2023
  3. 3Founder effects and consanguinity shape beta-thalassemia genetics: A five-year hospital-based cohort study from Pakistan2025
  4. 4Epidemiological and molecular analysis of thalassemia (Beta Globin Gene) in the heterogeneous population of gwadar, Pakistan2025
  5. 5Multi-omics analysis of red blood cells reveals thalassemia severity beyond globin gene mutations2026 · 1 citations