Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab

Fariha  Nasreen; Attika  Khalid; Lubna  Zafar; Suhaib Ahmed Ahmed; Asma Shaikh

doi:10.12669/pjms.39.5.7376

Fariha Nasreen Wapda Hospital Rawalpindi
Attika Khalid Pathology department,Foundation University medical colleage and Hospital Islamabad
Lubna Zafar Pathology department,Foundation University medical colleage and Hospital Islamabad
Suhaib Ahmed Ahmed Riphah International University Islamabad
Asma Shaikh Jinnah sindh medical university

DOI: https://doi.org/10.12669/pjms.39.5.7376

Keywords: Xmn-l, polymorphism, thalassemia intermedia

Abstract

Objective: The aim of this study was to determine frequency of secondary modifiers in non-transfusion dependent thalassemia.

Methods: This descriptive cross sectional study was done at Fauji Foundation Hospital Islamabad. Seventy diagnosed patients of thalassemia intermedia were included. Deoxyribonucleic acid (DNA) was extracted using Chelex method. The Xmn-1 and BCL11A polymorphisms were analyzed by Amplification Refractory Mutation System (ARMS) and Restriction Fragment Length Polymorphism (RFLP) PCR. The PCR amplified products were run on Polyacrylamide Gel Electrophoresis (PAGE).

Results: The Xmn-l polymorphism was seen in 26/70 (37.1%) and BCL11A polymorphism was seem in 50/70 (71.4%) of the patients.

Conclusion: BCL11A and Xmn-l polymorphisms are important secondary modifiers in patients with thalassaemia intermedia in Northern Punjab.

doi: https://doi.org/10.12669/pjms.39.5.7376

How to cite this: Nasreen F, Khalid A, Zafar L, Ahmad S, Shaikh A. Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab. Pak J Med Sci. 2023;39(5):1517-1520. doi: https://doi.org/10.12669/pjms.39.5.7376

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