Molecular characterization and mapping of glucose-6-phosphate dehydrogenase (G6PD) mutations in the Greater Mekong Subregion

Molecular characterization and mapping of glucose-6-phosphate dehydrogenase (G6PD) mutations in the Greater Mekong Subregion
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DOI:
10.1186/s12936-019-2652-y
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发表时间:
2019-01-23
期刊:
影响因子:
3
通讯作者:
Nosten, Francois
Nosten, Francois
中科院分区:
医学3区
文献类型:
--
作者:
Bancone, Germana;Menard, Didier;Nosten, Francois

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背景消灭间日疟原虫疟疾只能通过使用8-氨基喹啉(伯氨喹和他非诺喹)与ACT联合杀死血液和肝脏阶段的寄生虫来实现。然而,伯氨喹和其他8-氨基喹啉类药物在患有G6 PD缺乏症的受试者中引起剂量依赖性溶血,G6 PD缺乏症是一种X连锁的红细胞疾病,在热带和亚热带地区的人群中非常常见。为了通知更安全地使用8-氨基喹啉在大湄公河次区域,多中心研究进行了评估的患病率G6 PD缺乏症,并确定在柬埔寨,老挝人民民主共和国,缅甸,泰国和Vietnames.MethodsBlood样本中收集的样本中的主要G6 PD变种在国家疟疾调查或人口调查期间在这五个国家。在群体调查期间,使用荧光斑点试验表征样品的G6 PD表型。结果G6 PD缺乏症在该地区是常见的,缺乏或突变的半合子男性的总体平均患病率为14.0%,范围从泰国的平均7.3%,老挝人民民主共和国的8.1%,越南的8.9%,缅甸的15.8%和柬埔寨的18.8%。Mahidol和维昂占突变是最常见和最广泛的变种之间发现的九个investigated. ConclusionsDue的G6 PD缺乏症的高患病率在大湄公河次区域,间日疟消除战略应包括点的护理G6 PD检测(定性和定量),以允许安全和广泛的治疗与8-氨基喹啉。
BackgroundPlasmodium vivax malaria elimination can only be achieved by the deployment of 8-aminoquinolines (primaquine and tafenoquine) in combination with ACT to kill both blood and liver-stage parasites. However, primaquine and the other 8-aminoquinolines cause dose-dependent haemolysis in subjects with G6PD deficiency, an X-linked disorder of red blood cells that is very common in populations living in tropical and subtropical areas. In order to inform safer use of 8-aminoquinolines in the Greater Mekong Subregion, a multi-centre study was carried out to assess the prevalence of G6PD deficiency and to identify the main G6PD variants in samples collected in Cambodia, Lao PDR, Myanmar, Thailand and Vietnam.MethodsBlood samples were collected in the five countries during National Malaria Surveys or during Population Surveys. During Population Surveys samples were characterized for G6PD phenotype using the Fluorescent Spot Test. Samples were then genotyped for a panel of G6PD mutations.ResultsG6PD deficiency was found to be common in the region with an overall mean prevalence of deficient or mutated hemizygous males of 14.0%, ranging from a mean 7.3% in Thailand, 8.1% in Lao PDR, 8.9% in Vietnam, 15.8% in Myanmar and 18.8% in Cambodia. Mahidol and Viangchan mutations were the most common and widespread variants found among the nine investigated.ConclusionsOwing to the high prevalence of G6PD deficiency in the Greater Mekong Subregion, strategies for vivax malaria elimination should include point-of-care G6PD testing (both qualitative and quantitative) to allow safe and wide treatment with 8-aminoquinolines.