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

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. Deoxyribon...

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Published in:Pakistan journal of medical sciences 2023-10, Vol.39 (5), p.1517-1520
Main Authors: Nasreen, Fariha, Khalid, Attika, Zafar, Lubna, Ahmed, Suhaib Ahmed, Shaikh, Asma
Format: Article
Language:English
Subjects:
Age
Anemia
Blood diseases
Blood transfusion
Blood transfusions
Deoxyribonucleic acid
DNA
Ethylenediaminetetraacetic acid
Females
Genes
Genetic aspects
Genetic polymorphisms
Genotype & phenotype
Health aspects
Mortality
Mutation
Original
Patients
Polymorphism
Thalassemia
Thermal cycling
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Summary: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):---. doi: https://doi.org/10.12669/pjms.39.5.7376 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
ISSN:1682-024X
1681-715X
DOI:10.12669/pjms.39.5.7376