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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Autores principales: Nasreen, Fariha, Khalid, Attika, Zafar, Lubna, Ahmad, Suhaib, Shaikh, Asma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10480719/
https://www.ncbi.nlm.nih.gov/pubmed/37680845
http://dx.doi.org/10.12669/pjms.39.5.7376
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author Nasreen, Fariha
Khalid, Attika
Zafar, Lubna
Ahmad, Suhaib
Shaikh, Asma
author_facet Nasreen, Fariha
Khalid, Attika
Zafar, Lubna
Ahmad, Suhaib
Shaikh, Asma
author_sort Nasreen, Fariha
collection PubMed
description 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.
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spelling pubmed-104807192023-09-07 Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab Nasreen, Fariha Khalid, Attika Zafar, Lubna Ahmad, Suhaib Shaikh, Asma Pak J Med Sci Original Article 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. Professional Medical Publications 2023 /pmc/articles/PMC10480719/ /pubmed/37680845 http://dx.doi.org/10.12669/pjms.39.5.7376 Text en Copyright: © Pakistan Journal of Medical Sciences https://creativecommons.org/licenses/by/3.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0 (https://creativecommons.org/licenses/by/3.0/) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Nasreen, Fariha
Khalid, Attika
Zafar, Lubna
Ahmad, Suhaib
Shaikh, Asma
Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab
title Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab
title_full Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab
title_fullStr Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab
title_full_unstemmed Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab
title_short Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab
title_sort frequency of secondary modifiers in beta thalassemia intermedia in patients from northern punjab
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10480719/
https://www.ncbi.nlm.nih.gov/pubmed/37680845
http://dx.doi.org/10.12669/pjms.39.5.7376
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