Department of Parasitology and Tropical Medicine, and Institute of Medical Science, Gyeongsang National University College of Medicine, Jinju 52727, Republic of Korea; Department of Convergence Medical Science, Gyeongsang National University, Jinju 52727, Republic of Korea.
Department of Parasitology and Tropical Medicine, and Institute of Medical Science, Gyeongsang National University College of Medicine, Jinju 52727, Republic of Korea; Department of Convergence Medical Science, Gyeongsang National University, Jinju 52727, Republic of Korea.
Parasitol Int. 2024 Jun;100:102868. doi: 10.1016/j.parint.2024.102868. Epub 2024 Feb 21.
Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) deficiency is one of the most common X-linked hereditary disorders worldwide. G6PD deficiency provides resistance against severe malaria, but paradoxically, G6PD deficiency is also a stumbling block in fighting against malaria. Primaquine (PQ), a drug for the radical cure of Plasmodium vivax, can cause lethal acute hemolytic anemia in malaria patients with inherited G6PD deficiency. In this study, we analyzed the phenotypic and genotypic G6PD deficiency status in 1721 individuals (963 males and 758 females) residing in three malaria-endemic areas within the Gia Lai province, Vietnam. The G6PD activity in individuals ranged from 3.04 to 47.82 U/g Hb, with the adjusted male median (AMM) of 7.89 U/g Hb. Based on the G6PD activity assay results, no phenotypic G6PD deficiency was detected. However, the multiplex polymerase chain reaction to detect G6PD variations in the gene level revealed that 26 individuals (7 males, 19 females) had Viangchan mutations (871 G > A). Sequencing analyses suggested that all the males were hemizygous Viangchan, whereas one was homozygous, and 18 were heterozygous Viangchan in females. These results suggested a relatively low prevalence of G6PD deficiency mutation rate (1.51%) in the minor ethnic populations residing in the Gia Lai province, Vietnam. However, considering these areas are high-risk malaria endemic, concern for proper and safe use of PQ as a radical cure of malaria is needed by combining a G6PD deficiency test before PQ prescription.
葡萄糖-6-磷酸脱氢酶(G6PD;EC 1.1.1.49)缺乏症是世界上最常见的 X 连锁遗传性疾病之一。G6PD 缺乏症为严重疟疾提供了抵抗力,但矛盾的是,G6PD 缺乏症也是对抗疟疾的绊脚石。伯氨喹(PQ)是一种用于根治间日疟原虫的药物,可导致遗传性 G6PD 缺乏症的疟疾患者发生致命性急性溶血性贫血。在这项研究中,我们分析了居住在越南嘉莱省三个疟疾流行地区的 1721 个人(963 名男性和 758 名女性)的表型和基因型 G6PD 缺乏症状况。个体的 G6PD 活性范围为 3.04 至 47.82 U/g Hb,调整后的男性中位数(AMM)为 7.89 U/g Hb。根据 G6PD 活性测定结果,未检测到表型 G6PD 缺乏症。然而,基因水平上检测 G6PD 变异的多重聚合酶链反应显示,26 个人(7 名男性,19 名女性)有 Viangchan 突变(871 G > A)。测序分析表明,所有男性均为 Viangchan 半合子,1 人为纯合子,18 人为女性杂合子 Viangchan。这些结果表明,越南嘉莱省少数民族人群的 G6PD 缺乏症突变率(1.51%)相对较低。然而,考虑到这些地区是疟疾高发流行区,在使用 PQ 作为疟疾根治之前,需要结合 G6PD 缺乏症检测,以确保 PQ 的正确和安全使用。