Sickle cell disease in Middle East Arab countries.
Sickle cell disease in Middle East Arab countries.
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DOI：
10.4103/0971-5916.90984
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发表时间：
2011-11
期刊：
影响因子：
--
通讯作者：
Warsy AS
中科院分区：
文献类型：
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作者：
El-Hazmi MA;Al-Hazmi AM;Warsy AS
镰状细胞（HbS）基因在中东阿拉伯国家发生的频率不同，具有特征性的分布模式，代表了该地区血液遗传性疾病的总体情况。该基因的起源一直存在争议，但使用β-珠蛋白基因单倍型的研究已经确定HbS有多个起源。在某些地区，HbS基因是常见的，并表现出多态性，而在其他地区则相反。HbS和地中海贫血基因的高流行率和维持的一个共同致病因素是疟疾的地方性。HbS基因还与其他血红蛋白变体和地中海贫血基因共存，并且所产生的临床状态被称为镰状细胞病（SCD）。在中东阿拉伯国家，SCD的临床表现表现为两种不同的形式，良性和严重形式，这与两种不同的β-珠蛋白基因单倍型有关。这些被称为沙特-印度和贝宁单倍型，分别。在大多数中东阿拉伯国家，HbS与沙特-印度单倍型相关，而在其他国家，它与贝宁单倍型相关。本综述概述了中东阿拉伯国家HbS基因与其他血红蛋白疾病的频率、分布、临床特征、管理和预防以及基因相互作用。
The sickle cell (HbS) gene occurs at a variable frequency in the Middle Eastern Arab countries, with characteristic distribution patterns and representing an overall picture of blood genetic disorders in the region. The origin of the gene has been debated, but studies using β-globin gene haplotypes have ascertained that there were multiple origins for HbS. In some regions the HbS gene is common and exhibits polymorphism, while the reverse is true in others. A common causative factor for the high prevalence and maintenance of HbS and thalassaemia genes is malaria endemicity. The HbS gene also co-exists with other haemoglobin variants and thalassaemia genes and the resulting clinical state is referred to as sickle cell disease (SCD). In the Middle Eastern Arab countries, the clinical picture of SCD expresses two distinct forms, the benign and the severe forms, which are related to two distinct β-globin gene haplotypes. These are referred to as the Saudi-Indian and the Benin haplotypes, respectively. In a majority of the Middle Eastern Arab countries the HbS is linked to the Saudi-Indian haplotype, while in others it is linked to the Benin haplotype. This review outlines the frequency, distribution, clinical feature, management and prevention as well as gene interactions of the HbS genes with other haemoglobin disorders in the Middle Eastern Arab countries.