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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Detalles Bibliográficos
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
Descripción
Sumario: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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