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Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab
Fariha Nasreen1, Attika Khalid2, Lubna Zafar3
1Dr. Fariha Nasreen, FCPS (Heam) Wapda Hospital, Rawalpindi, Pakistan.
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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