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1
Xmn1-158 γGVariant in B-Thalassemia Intermediate Patients in South-East of Iran.伊朗东南部β-地中海贫血中间型患者中的Xmn1-158 γG变异体
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2
Association of BCL11A genetic variant (rs11886868) with severity in β-thalassaemia major & sickle cell anaemia.BCL11A基因变异（rs11886868）与重型β地中海贫血和镰状细胞贫血严重程度的关联
Indian J Med Res. 2016 Apr;143(4):449-54. doi: 10.4103/0971-5916.184285.
3
Molecular understanding of Indian untransfused thalassemia intermedia.对印度未经输血的中间型地中海贫血的分子理解。
Int J Lab Hematol. 2015 Dec;37(6):791-6. doi: 10.1111/ijlh.12407. Epub 2015 Jul 30.
4
XmnI POLYMORPHISM AND DISEASE SEVERITY IN PATIENTS WITH BETA THALASSEMIA FROM NORTHERN PAKISTAN.巴基斯坦北部β地中海贫血患者的XmnI多态性与疾病严重程度
J Ayub Med Coll Abbottabad. 2015 Jan-Mar;27(1):13-6.
5
Frequency of Gγ-globin promoter -158 (C>T) XmnI polymorphism in patients with homozygous/compound heterozygous beta thalassaemia.纯合子/复合杂合子β地中海贫血患者中Gγ-珠蛋白启动子-158（C>T）XmnI多态性的频率
Hematol Oncol Stem Cell Ther. 2015 Mar;8(1):10-5. doi: 10.1016/j.hemonc.2014.12.004. Epub 2015 Jan 6.
6
The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background.BCL11A 多态性对β地中海贫血患者表型的影响可能受到β珠蛋白基因调控区和/或 Xmn1-HBG2 基因型背景的影响。
Blood Cells Mol Dis. 2013 Aug;51(2):80-4. doi: 10.1016/j.bcmd.2013.02.007. Epub 2013 Mar 28.
7
Recent advances in the molecular understanding of non-transfusion-dependent thalassemia.非输血依赖型地中海贫血分子机制的最新研究进展。
Blood Rev. 2012 Apr;26 Suppl 1:S7-S11. doi: 10.1016/S0268-960X(12)70004-8.
8
Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.β-地中海贫血的遗传修饰物及由首次输血年龄评估的临床严重程度。
Haematologica. 2012 Jul;97(7):989-93. doi: 10.3324/haematol.2011.053504. Epub 2012 Jan 22.
9
Amelioration of Sardinian beta0 thalassemia by genetic modifiers.遗传修饰因子对撒丁岛β0地中海贫血的改善作用。
Blood. 2009 Oct 29;114(18):3935-7. doi: 10.1182/blood-2009-04-217901. Epub 2009 Aug 20.
10
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.全基因组关联研究表明，BCL11A与胎儿血红蛋白持续存在及β地中海贫血表型改善相关。
Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1620-5. doi: 10.1073/pnas.0711566105. Epub 2008 Feb 1.

旁遮普邦北部中间型β地中海贫血患者中次要修饰因子的频率

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

作者信息

Nasreen Fariha, Khalid Attika, Zafar Lubna, Ahmad Suhaib, Shaikh Asma

机构信息

Dr. Fariha Nasreen, FCPS (Heam) Wapda Hospital, Rawalpindi, Pakistan.

Dr. Attika Khalid, FCPS (Haem) Pathology Department, Foundation University Medical College and Hospital, Islamabad, Pakistan.

出版信息

Pak J Med Sci. 2023 Sep-Oct;39(5):1517-1520. doi: 10.12669/pjms.39.5.7376.

DOI:10.12669/pjms.39.5.7376
PMID:37680845
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10480719/
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.

摘要

目的

本研究旨在确定非输血依赖型地中海贫血中次要修饰因子的频率。

方法

本描述性横断面研究在伊斯兰堡的福吉基金会医院进行。纳入了70例确诊的中间型地中海贫血患者。采用Chelex法提取脱氧核糖核酸（DNA）。通过扩增不应突变系统（ARMS）和限制性片段长度多态性（RFLP）PCR分析Xmn-1和BCL11A多态性。PCR扩增产物在聚丙烯酰胺凝胶电泳（PAGE）上进行电泳。

结果

26/70（37.1%）的患者存在Xmn-1多态性，50/70（71.4%）的患者存在BCL11A多态性。

结论

BCL11A和Xmn-1多态性是旁遮普邦北部中间型地中海贫血患者重要的次要修饰因子。