Faculty of Science and Technology, Center of Frontier Sciences, Universiti Kebangsaan Malaysia, Selangor, Malaysia.
Faculty of Medicine, Department of Pathology, Universiti Kebangsaan Malaysia (UKM), Kuala Lumpur, Malaysia.
PLoS One. 2023 Dec 12;18(12):e0294891. doi: 10.1371/journal.pone.0294891. eCollection 2023.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder characterized by reduced G6PD enzyme levels in the blood. This condition is common in populations exposed to malaria; an acute febrile disease caused by Plasmodium parasites. G6PD-deficient individuals may suffer from acute hemolysis following the prescription of Primaquine, an antimalarial treatment. The population at risk for such a condition includes the Senoi group of Orang Asli, a remote indigenous community in Malaysia. This study aimed to elucidate the G6PD molecular heterogeneity in this subethnic group which is important for malaria elimination. A total of 662 blood samples (369 males and 293 females) from the Senoi subethnic group were screened for G6PD deficiency using a quantitative G6PD assay, OSMMR2000-D kit with Hb normalization. After excluding the family members, the overall prevalence of G6PD deficiency in the studied population was 15.2% (95% CI: 11-19%; 56 of 369), with males (30 of 172; 17.4%) outnumbering females (26 of 197; 13.2%). The adjusted male median (AMM), defined as 100% G6PD activity, was 11.8 IU/gHb. A total of 36 participants (9.6%; 26 male and 10 female) were deficient (<30% of AMM) and 20 participants (5.4%; 4 male and 16 female) were G6PD-intermediate (30-70% of AMM). A total of 87 samples were genotyped, of which 18 showed no mutation. Seven mutations were found among 69 genotyped samples; IVS11 T93C (47.1%; n = 41), rs1050757 (3'UTR +357A>G)(39.1%; n = 34), G6PD Viangchan (c.871G>A)(25.3%; n = 22), G6PD Union (c.1360C>T)(21.8%; n = 19), c.1311C>T(20.7%; n = 18), G6PD Kaiping (c.1388G>A)(8.0%; n = 7), and G6PD Coimbra (c.592C>T)(2.3%; n = 2). Our analysis revealed 27 hemizygote males, 18 heterozygote females, 7 homozygote females, and 2 compound heterozygote females. This study confirms the high prevalence of G6PD deficiency among the Senoi Malaysian Orang Asli, with a significant degree of molecular heterogeneity. More emphasis should be placed on screening for G6PD status and proper and safe use of Primaquine in the elimination of malaria among this indigenous population.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是一种 X 连锁遗传疾病，其特征是血液中的 G6PD 酶水平降低。这种情况在接触疟疾的人群中很常见；疟疾是由疟原虫引起的急性发热性疾病。G6PD 缺乏症患者在服用抗疟药物伯氨喹啉后可能会发生急性溶血。有这种情况风险的人群包括马来西亚偏远土著社区的塞诺伊族群的人。本研究旨在阐明这种亚族群的 G6PD 分子异质性，这对于消除疟疾很重要。使用定量 G6PD 测定法（OSMMR2000-D 试剂盒与 Hb 归一化），对塞诺伊亚族群的 662 名血液样本（369 名男性和 293 名女性）进行了 G6PD 缺乏症筛查。排除家庭成员后，研究人群中 G6PD 缺乏症的总患病率为 15.2%（95%CI：11-19%；56/369），男性（172 名中的 30 名；17.4%）多于女性（197 名中的 26 名；13.2%）。定义为 100%G6PD 活性的调整男性中位数（AMM）为 11.8IU/gHb。共有 36 名参与者（9.6%；26 名男性和 10 名女性）缺乏（<30%的 AMM），20 名参与者（5.4%；4 名男性和 16 名女性）为 G6PD 中间型（30-70%的 AMM）。共对 87 个样本进行了基因分型，其中 18 个样本未发生突变。在 69 个基因分型样本中发现了 7 种突变；IVS11 T93C（47.1%；n=41）、rs1050757（3'UTR+357A>G）（39.1%；n=34）、G6PD Viangchan（c.871G>A）（25.3%；n=22）、G6PD Union（c.1360C>T）（21.8%；n=19）、c.1311C>T（20.7%；n=18）、G6PD Kaiping（c.1388G>A）（8.0%；n=7）和 G6PD Coimbra（c.592C>T）（2.3%；n=2）。我们的分析显示，有 27 名半合子男性、18 名杂合子女性、7 名纯合子女性和 2 名复合杂合子女性。本研究证实了马来西亚塞诺伊土著群体中 G6PD 缺乏症的高患病率，具有显著的分子异质性。应更加重视在该土著人群中筛查 G6PD 状态，并在消除疟疾时正确和安全地使用伯氨喹啉。
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