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沙特阿拉伯的地中海贫血综合征。当地研究的荟萃分析。

Thalassemia syndromes in Saudi Arabia. Meta-analysis of local studies.

作者信息

Al-Awamy B H

机构信息

Department of Pediatrics, King Faisal University, PO Box 5438, Dammam 31422, Kingdom of Saudi Arabia.

出版信息

Saudi Med J. 2000 Jan;21(1):8-17.

PMID:11533744
Abstract

The geographical distribution of Alpha and Beta-Thalassemias differ markedly. Alpha-Thalassemia being particularly prevalent in Southeast Asia and Beta-Thalassemia in the Mediterranean basin. Thalassemia syndromes are common in Saudi Arabia: the Beta-Thalassemia genes occur with variable frequency in different regions of Saudi Arabia and both B+ and Bo thalassemia have been reported. Alpha-Thalassemia is also highly prevalent here and the interaction with the sickle cell gene is commonly observed. Over the last few years, a great deal of information regarding the clinical, molecular and management of these disorders has accumulated in the literature. In this paper we summarize some of the recent studies on the subject along with our experience and our attempt to highlight a number of questions still awaiting answers.

摘要

α地中海贫血和β地中海贫血的地理分布差异显著。α地中海贫血在东南亚尤为普遍,而β地中海贫血在地中海盆地较为常见。地中海贫血综合征在沙特阿拉伯很常见:β地中海贫血基因在沙特阿拉伯不同地区的出现频率各不相同,并且已报道了B+和β0地中海贫血。α地中海贫血在这里也非常普遍,并且经常观察到与镰状细胞基因的相互作用。在过去几年中,文献中积累了大量关于这些疾病的临床、分子和治疗方面的信息。在本文中,我们总结了一些关于该主题的最新研究以及我们的经验,并试图突出一些仍有待解答的问题。

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1
Thalassemia syndromes in Saudi Arabia. Meta-analysis of local studies.沙特阿拉伯的地中海贫血综合征。当地研究的荟萃分析。
Saudi Med J. 2000 Jan;21(1):8-17.
2
Appraisal of sickle-cell and thalassaemia genes in Saudi Arabia.沙特阿拉伯镰状细胞病和地中海贫血基因评估
East Mediterr Health J. 1999 Nov;5(6):1147-53.
3
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Zhonghua Fu Chan Ke Za Zhi. 2012 Feb;47(2):90-5.
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[Genetic diagnosis of alpha and beta thalassemia dual heterozygote].α和β地中海贫血双重杂合子的基因诊断
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[A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province].[广东省珠海市基于社区的大规模人群α和β地中海贫血基因筛查及产前诊断]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Jun;25(3):256-61.
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The thalassemia syndromes: lessons from molecular medicines index case.地中海贫血综合征:分子医学索引病例的经验教训。
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Detection of alpha-thalassemia in beta-thalassemia carriers and prevention of Hb Bart's hydrops fetalis through prenatal screening.β地中海贫血携带者中α地中海贫血的检测及通过产前筛查预防巴氏水肿胎儿
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Spectrum of α-thalassemia mutations in transfusion-dependent β-thalassemia patients from the Eastern Province of Saudi Arabia.沙特阿拉伯东部省输血依赖型β地中海贫血患者的α地中海贫血突变谱。
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Red Cell Alloimmunization and Autoimmunization Among Sickle Cell Disease and Thalassemia Patients in Jazan Province, Saudi Arabia.沙特阿拉伯吉赞省镰状细胞病和地中海贫血患者中的红细胞同种免疫和自身免疫
Int J Gen Med. 2022 Apr 15;15:4093-4100. doi: 10.2147/IJGM.S360320. eCollection 2022.
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HV2 fragment mutations in β-thalassemia patients and a new base pair insertion of high-altitude cases.β地中海贫血患者的HV2片段突变及高原病例的一个新碱基对插入
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