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引用本文的文献

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Genotypic and Phenotypic Composition of Sickle Cell Disease in the Arab Population - A Systematic Review.阿拉伯人群中镰状细胞病的基因型和表型组成——一项系统综述
Pharmgenomics Pers Med. 2023 Feb 21;16:133-144. doi: 10.2147/PGPM.S391394. eCollection 2023.

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Prevalence and Diversity of Haplotypes of Sickle Cell Disease in the Eastern Province of Saudi Arabia.沙特阿拉伯东部省份镰状细胞病单倍型的流行率和多样性。
Hemoglobin. 2020 Mar;44(2):78-81. doi: 10.1080/03630269.2020.1739068. Epub 2020 May 25.
2
L-Selectin P213S and Integrin Alpha 2 C807T Genetic Polymorphisms in Pediatric Sickle Cell Disease Patients.小儿镰状细胞病患者中L-选择素P213S和整合素α2 C807T基因多态性
J Pediatr Hematol Oncol. 2020 Nov;42(8):e707-e711. doi: 10.1097/MPH.0000000000001839.
3
New mutations of locus control region in Saudi sickle patients.沙特镰状细胞病患者中基因座控制区的新突变
Saudi J Biol Sci. 2020 May;27(5):1265-1270. doi: 10.1016/j.sjbs.2020.01.028. Epub 2020 Jan 31.
4
Distribution of sickle cell disease and assessment of risk factors based on transcranial Doppler values in the Gulf region.海湾地区镰状细胞病的分布及基于经颅多普勒值的危险因素评估
Hematology. 2020 Dec;25(1):55-62. doi: 10.1080/16078454.2020.1714113.
5
Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia.沙特镰状细胞贫血患者β-珠蛋白基因的生化与分子分析
Saudi J Biol Sci. 2019 Nov;26(7):1377-1384. doi: 10.1016/j.sjbs.2019.03.003. Epub 2019 Mar 15.
6
RoB 2: a revised tool for assessing risk of bias in randomised trials.《随机对照试验偏倚风险评估工具2:修订版》
BMJ. 2019 Aug 28;366:l4898. doi: 10.1136/bmj.l4898.
7
TNFSF/TNFRSF cytokine gene expression in sickle cell anemia: Up-regulated TNF-like cytokine 1A (TL1A) and its decoy receptor (DcR3) in peripheral blood mononuclear cells and plasma.TNF 超家族/肿瘤坏死因子受体超家族细胞因子基因在镰状细胞贫血中的表达:在外周血单个核细胞和血浆中上调 TNF 样细胞因子 1A(TL1A)及其诱饵受体(DcR3)。
Cytokine. 2019 Nov;123:154744. doi: 10.1016/j.cyto.2019.154744. Epub 2019 Jun 28.
8
A Phase 3 Randomized Trial of Voxelotor in Sickle Cell Disease.一项针对镰状细胞病患者的 voxotor 的 3 期随机试验。
N Engl J Med. 2019 Aug 8;381(6):509-519. doi: 10.1056/NEJMoa1903212. Epub 2019 Jun 14.
9
Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.HMOX1 和 CCR5 基因型对埃及镰状细胞贫血患者临床表型的影响。
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10
Prevalence and Genetic Analysis of - and -Thalassemia and Sickle Cell Anemia in Southwest Iran.伊朗西南部 - 和 - 地中海贫血症以及镰状细胞贫血症的流行情况和基因分析。
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“阿拉伯人群镰状细胞病的基因组成:系统评价”方案

Protocol for "Genetic composition of sickle cell disease in the Arab population: A systematic review".

作者信息

Ata Fateen, Yousaf Zohaib, Sardar Sundus, Javed Saad, Iqbal Phool, Khamees Ibraheem, Malkawi Lujain Salahaldeen, Yassin Mohamed A

机构信息

Department of Internal Medicine Hamad General Hospital, Hamad Medical Corporation Doha Qatar.

Department of Internal Medicine Allama Iqbal Medical College Lahore Pakistan.

出版信息

Health Sci Rep. 2022 May 3;5(3):e450. doi: 10.1002/hsr2.450. eCollection 2022 May.

DOI:10.1002/hsr2.450
PMID:35509404
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9062566/
Abstract

BACKGROUND

Sickle Cell Disease (SCD) is a global health issue in hematology with a progressively increasing prevalence. There are recent advances in the management of SCD, with new drugs being introduced. It is essential to analyze the genetic makeup of SCD regionally to anticipate the effectiveness of management modalities. This systematic review's main objectives are (a) to combine the existing knowledge of the genetic composition of SCD in the Arab population and (b) to analyze the various phenotypes of SCD prevalent in the Arab population.

METHODS

We will perform a systematic review and search multiple electronic databases predefined search terms to identify eligible articles. Eligible studies should report findings on the genetic testing of Sickle Cell disease in the 22 Arab countries. Case reports, case series, observational studies with cross-sectional or prospective research design, case-control studies, and experimental studies will be included. Study quality will be independently evaluated by two reviewers using the statistical methodology and categories guided by the Cochrane Collaboration Handbook and PRISMA guidelines.

DISCUSSION

This review will explore and integrate the evidence available on the various genotypes and phenotypes of SCD in the Arab population. By acquiring and summarizing data about the genetic and phenotypic variants of the SCD patient population, this study will add to the knowledge and help find more precise treatments.

SYSTEMATIC REVIEW REGISTRATION

The protocol is registered at the International Prospective Register of Systematic Reviews (PROSPERO; registration number: CRD42020218666).

摘要

背景

镰状细胞病(SCD)是血液学领域的一个全球性健康问题,其患病率呈逐步上升趋势。SCD的管理方面有了新进展,新型药物不断推出。对SCD进行区域基因构成分析对于预测管理模式的有效性至关重要。本系统评价的主要目标是:(a)整合阿拉伯人群中SCD基因构成的现有知识;(b)分析阿拉伯人群中普遍存在的SCD的各种表型。

方法

我们将进行系统评价,并在多个电子数据库中搜索预定义的检索词,以识别符合条件的文章。符合条件的研究应报告22个阿拉伯国家镰状细胞病基因检测的结果。将纳入病例报告、病例系列、采用横断面或前瞻性研究设计的观察性研究、病例对照研究和实验性研究。研究质量将由两名评审员根据Cochrane协作手册和PRISMA指南指导的统计方法和类别进行独立评估。

讨论

本综述将探索并整合阿拉伯人群中SCD各种基因型和表型的现有证据。通过获取和总结SCD患者群体的基因和表型变异数据,本研究将增加相关知识,并有助于找到更精确的治疗方法。

系统评价注册

该方案已在国际前瞻性系统评价注册库(PROSPERO;注册号:CRD42020218666)注册。