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在埃塞俄比亚东部的梅特拉哈拉健康中心就诊的疑似疟疾患者中,葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的流行情况及其遗传变异的分布。

Prevalence of G6PD deficiency and distribution of its genetic variants among malaria-suspected patients visiting Metehara health centre, Eastern Ethiopia.

机构信息

Department of Medical Laboratory Sciences, Debre Berhan University, Debre Berhan, Ethiopia.

Department of Microbiology, Immunology and Parasitology, Addis Ababa University, Addis Ababa, Ethiopia.

出版信息

Malar J. 2022 Sep 8;21(1):260. doi: 10.1186/s12936-022-04269-5.

Abstract

BACKGROUND

Glucose-6-phosphate dehydrogenase (G6PD) is cytosolic enzyme, which has a vital role for the integrity and functioning of red blood cells. Lower activity of this enzyme leads to the occurrence of acute haemolytic anaemia after exposure to oxidative stressors like primaquine. Primaquine is an important drug for the radical cure of Plasmodium vivax and blocking transmission of Plasmodium falciparum, and thereby enhancing malaria elimination. However, there is a need to identify G6PD deficient individuals and administer the drug with caution due to its haemolytic side effects. The main objective of this study is to determine the prevalence of G6PD deficiency among malaria-suspected individuals.

METHODS

A facility-based cross-sectional study was conducted from September 2020 to September 2021 in Metehara Health Centre, Eastern Ethiopia. A structured questionnaire was used to collect the socio-demographic and clinical information of the study participants. Capillary and venous blood samples were collected based on standard procedures for onsite screening, dried blood spot preparation, and malaria microscopy. The G6PD enzyme activity was measured by careSTART™ G6PD biosensor analyzer. Data was entered and analysed by SPSS.

RESULTS

A total of 498 study participants were included in the study, of which 62% (309) were males. The overall prevalence of G6PD deficiency based on the biosensor screening was 3.6% (18/498), of which 2.9% and 4.8% were males and females, respectively. Eleven of the G6PD deficient samples had mutations confirmed by G6PD gene sequencing analysis. Mutations were detected in G267 + 119C/T, A376T, and ChrX:154535443. A significant association was found in sex and history of previous malaria infection with G6PD deficiency.

CONCLUSIONS

The study showed that the G6PD deficient phenotype exists in Metehara even if the prevalence is not very high. G267 + 119C/T mutation is the predominant G6PD variant in this area. Therefore, malaria patient treatment using primaquine should be monitored closely for any adverse effects.

摘要

背景

葡萄糖-6-磷酸脱氢酶(G6PD)是一种胞质酶,对红细胞的完整性和功能至关重要。这种酶活性降低会导致在接触到氧化应激原(如伯氨喹)后发生急性溶血性贫血。伯氨喹是根治间日疟原虫和阻断恶性疟原虫传播的重要药物,从而增强疟疾消除。然而,由于其溶血副作用,需要识别 G6PD 缺乏个体并谨慎使用该药物。本研究的主要目的是确定疑似疟疾个体中 G6PD 缺乏的流行率。

方法

这是一项 2020 年 9 月至 2021 年 9 月在埃塞俄比亚东部 Metehara 保健中心进行的基于设施的横断面研究。使用结构化问卷收集研究参与者的社会人口学和临床信息。根据标准程序采集毛细血管和静脉血样,进行现场筛查、制备干血斑和疟疾显微镜检查。使用 careSTART™ G6PD 生物传感器分析仪测量 G6PD 酶活性。数据由 SPSS 输入和分析。

结果

共有 498 名研究参与者纳入研究,其中 62%(309 名)为男性。根据生物传感器筛查,G6PD 缺乏的总体患病率为 3.6%(18/498),其中男性和女性分别为 2.9%和 4.8%。11 份 G6PD 缺乏样本的基因突变通过 G6PD 基因测序分析得到确认。在 G267 + 119C/T、A376T 和 ChrX:154535443 中检测到突变。在性别和既往疟疾感染史与 G6PD 缺乏之间发现了显著关联。

结论

该研究表明,即使流行率不高,Metehara 也存在 G6PD 缺乏表型。G267 + 119C/T 突变是该地区主要的 G6PD 变异。因此,使用伯氨喹治疗疟疾患者时应密切监测任何不良反应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9b14/9461287/76c19c873432/12936_2022_4269_Fig1_HTML.jpg

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