Evidence map›Paper›PMID 42819569›Full record

ArticlePakistan journal of medical sciences2026

FPN1-8C>G Polymorphism as a potential genetic modifier of iron overload in transfusion-dependent β-Thalassemia major patients receiving HbF augmentation therapy.

Maeesa Wadood, Muhammad Younus Jamal Siddiqi, Iram Nazir, Muhammad Rizwan

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Article in Pakistan journal of medical sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Maeesa WadoodMaeesa Wadood (MBBS, M.Phil., MS) Executive Medical Director, Muhammadi Hematology, Oncology Services & Welfare Foundation, Karachi, Pakistan. Professor, Department of Pathology, Baqai Medical University, Karachi, Pakistan.
Muhammad Younus Jamal SiddiqiMuhammad Younus Jamal Siddiqi (MBBS, Ph.D.) Associate Professor, Dow University of Health Sciences, Karachi, Pakistan. Research Supervisor and Assistant Professor (Adjunct), Baqai Institute of Hematology, Baqai Medical University, Karachi, Pakistan.
Iram NazirIram Nazir (MBBS, M.Phil.), Baqai Institute of Hematology, Baqai Medical University, Karachi, Pakistan.
Muhammad RizwanMuhammad Rizwan (MBBS, M.Phil., Ph.D.) Deputy Director and Associate Professor, Baqai Institute of Hematology, Baqai Medical University, Karachi, Pakistan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: To assess the association of the FPN1-8C>G polymorphism with iron overload and iron-regulatory biomarkers in transfusion-dependent β-thalassemia major patients receiving fetal hemoglobin (HbF) augmentation therapy. Methodology: This cross-sectional study was conducted from January 2024 to May 2025 at Fatima Hospital, Baqai Medical University, and Muhammadi Thalassemia Centre, Karachi, Pakistan. A total of 120 transfusion-dependent β-thalassemia major patients receiving hydroxyurea-based HbF augmentation therapy for at least six months were recruited through consecutive sampling. Conventional iron indices and serum hepcidin, erythroferrone (ERFE), growth differentiation factor-15 (GDF-15), and soluble transferrin receptor (sTfR) were measured. PCR-RFLP was performed for FPN1-8C>G genotyping, with Sanger sequencing confirmation. Results: The FPN1-8C>G variant was present in 39 (32.5%) patients. Iron overload was significantly associated with genotype ( Conclusions: FPN1-8C>G was significantly associated with greater iron burden and altered iron-regulatory biomarkers. It may represent a potential genetic marker of susceptibility to iron overload in transfusion-dependent β-thalassemia major; however, prospective validation is required.

Indexed as

FerroportinGeneticHydroxyureaIron OverloadPolymorphismβ-Thalassemia

Identifiers

PMID42819569
PMCPMC13624431

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