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

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.

SUBMITTER: Nasreen F

PROVIDER: S-EPMC10480719 | biostudies-literature | 2023 Sep-Oct

REPOSITORIES: biostudies-literature

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

Nasreen Fariha F Khalid Attika A Zafar Lubna L Ahmad Suhaib S Shaikh Asma A

Pakistan journal of medical sciences 20230901 5

<h4>Objective</h4>The aim of this study was to determine frequency of secondary modifiers in non-transfusion dependent thalassemia.<h4>Methods</h4>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 Po ...[more]

PMID: 37680845

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