Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab.
| Autor: | Nasreen F; Dr. Fariha Nasreen, FCPS (Heam) Wapda Hospital, Rawalpindi, Pakistan., Khalid A; Dr. Attika Khalid, FCPS (Haem) Pathology Department, Foundation University Medical College and Hospital, Islamabad, Pakistan., Zafar L; Prof. Lubna Zafar, FCPS (Haem) Pathology Department, Foundation University Medical College and Hospital, Islamabad, Pakistan., Ahmad S; Prof. Suhaib Ahmed, FCPS (Haem), PhD. Riphah International University, Islamabad, Pakistan., Shaikh A; Dr. Asma Shaikh, MPhil (Haem) Sindh Medical Colleague, Jinnah Sindh Medical University, Karachi, Pakistan. |
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| Jazyk: | angličtina |
| Zdroj: | Pakistan journal of medical sciences [Pak J Med Sci] 2023 Sep-Oct; Vol. 39 (5), pp. 1517-1520. |
| DOI: | 10.12669/pjms.39.5.7376 |
| Abstrakt: | 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. Competing Interests: Conflict of Interest: None. (Copyright: © Pakistan Journal of Medical Sciences.) |
| Databáze: | MEDLINE |
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