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

被引：0

作者：

Nasreen, Fariha ^{[1
]}

Khalid, Attika ^{[2
]}

Zafar, Lubna ^{[2
]}

Ahmad, Suhaib ^{[3
]}

Shaikh, Asma ^{[4
]}

机构：

[1] Wapda Hosp, Rawalpindi, Pakistan

[2] Fdn Univ Med Coll & Hosp, Pathol Dept, Islamabad, Pakistan

[3] Riphah Int Univ, Islamabad, Pakistan

[4] Jinnah Sindh Med Univ, Sindh Med Colleague, Karachi, Pakistan

来源：

PAKISTAN JOURNAL OF MEDICAL SCIENCES | 2023年 / 39卷 / 05期

关键词：

Xmn-l; Polymorphism; Thalassemia intermedia; PHENOTYPE; SEVERITY;

D O I：

10.12669/pjms.39.5.7376

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1517 / 1520

页数：4

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