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洪都拉斯疟疾患者中葡萄糖-6-磷酸脱氢酶缺乏症:对存档血样的描述性研究

Glucose-6-phosphate dehydrogenase deficiency among malaria patients of Honduras: a descriptive study of archival blood samples.

作者信息

Zúñiga Miguel Á, Mejía Rosa E, Sánchez Ana L, Sosa-Ochoa Wilfredo H, Fontecha Gustavo A

机构信息

Microbiology Research Institute, National Autonomous University of Honduras, UNAH, Boulevard Suyapa, J1 Building, 4th Fl. Tegucigalpa, Francisco Morazán, Honduras.

Pan American Health Organization, Tegucigalpa, Honduras.

出版信息

Malar J. 2015 Aug 7;14:308. doi: 10.1186/s12936-015-0823-z.

Abstract

BACKGROUND

The frequency of deficient variants of glucose-6-phosphate dehydrogenase (G6PDd) is particularly high in areas where malaria is endemic. The administration of antirelapse drugs, such as primaquine, has the potential to trigger an oxidative event in G6PD-deficient individuals. According to Honduras´ national scheme, malaria treatment requires the administration of chloroquine and primaquine for both Plasmodium vivax and Plasmodium falciparum infections. The present study aimed at investigating for the first time in Honduras the frequency of the two most common G6PDd variants.

METHODS

This was a descriptive study utilizing 398 archival DNA samples of patients that had been diagnosed with malaria due to P. vivax, P. falciparum, or both. The most common allelic variants of G6PD: G6PD A+(376G) and G6PD A-(376G/202A) were assessed by two molecular methods (PCR-RFLP and a commercial kit).

RESULTS

The overall frequency of G6PD deficient genotypes was 16.08%. The frequency of the "African" genotype A- (Class III) was 11.9% (4.1% A- hemizygous males; 1.5% homozygous A- females; and 6.3% heterozygous A- females). A high frequency of G6PDd alleles was observed in samples from malaria patients residing in endemic regions of Northern Honduras. One case of Santamaria mutation (376G/542T) was detected.

CONCLUSIONS

Compared to other studies in the Americas, as well as to data from predictive models, the present study identified a higher-than expected frequency of genotype A- in Honduras. Considering that the national standard of malaria treatment in the country includes primaquine, further research is necessary to ascertain the risk of PQ-triggered haemolytic reactions in sectors of the population more likely to carry G6PD mutations. Additionally, consideration should be given to utilizing point of care technologies to detect this genetic disorder prior administration of 8-aminoquinoline drugs, either primaquine or any new drug available in the near future.

摘要

背景

葡萄糖-6-磷酸脱氢酶缺乏变异型(G6PDd)的频率在疟疾流行地区特别高。抗复发药物如伯氨喹的使用有可能在G6PD缺乏个体中引发氧化事件。根据洪都拉斯的国家方案,疟疾治疗对于间日疟原虫和恶性疟原虫感染均需要使用氯喹和伯氨喹。本研究旨在首次调查洪都拉斯两种最常见的G6PDd变异型的频率。

方法

这是一项描述性研究,利用了398份已诊断为间日疟原虫、恶性疟原虫或两者所致疟疾患者的存档DNA样本。通过两种分子方法(PCR-RFLP和一种商业试剂盒)评估G6PD最常见的等位基因变异型:G6PD A+(376G)和G6PD A-(376G/202A)。

结果

G6PD缺乏基因型的总体频率为16.08%。“非洲”基因型A-(Ⅲ类)的频率为11.9%(4.1% A-半合子男性;1.5%纯合子A-女性;6.3%杂合子A-女性)。在居住于洪都拉斯北部流行地区的疟疾患者样本中观察到G6PDd等位基因的高频率。检测到1例圣玛丽亚突变(376G/542T)。

结论

与美洲的其他研究以及预测模型的数据相比,本研究在洪都拉斯发现基因型A-的频率高于预期。鉴于该国疟疾治疗的国家标准包括伯氨喹,有必要进一步研究以确定在更可能携带G6PD突变的人群中伯氨喹引发溶血反应的风险。此外,在使用8-氨基喹啉药物(伯氨喹或近期可用的任何新药)之前,应考虑利用即时检测技术来检测这种遗传疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2c8/4528855/af4b3456ef80/12936_2015_823_Fig1_HTML.jpg

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