Department of Medical Technology, School of Allied Health Sciences, Walailak University, Thasala, Nakhon Si Thammarat, Thailand.
Hematology and Transfusion Science Research Center (HTSRC), Walailak University, Thasala, Nakhon Si Thammarat, Thailand.
PeerJ. 2022 Oct 10;10:e14208. doi: 10.7717/peerj.14208. eCollection 2022.
Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme essential for NADPH production and protecting cells, especially red blood cells, from free radicals. The oxidative stress from drugs, chemicals, and infections can induce red blood cell hemolysis in G6PD deficiency patients, causing a genetic disorder.
This study aims to provide more information on G6PD deficiency prevalence and the G6PD variants in the southern Thai population.
Five hundred and twenty healthy subjects in 14 provinces in the southern part of Thailand participated in the study. EDTA-blood samples were collected for a hematological parameters study, G6PD deficiency screening, and a molecular study for G6PD mutation. G6PD deficiency screening was tested using a fluorescent spot test. The types of G6PD mutation were identified by the allele-specific PCR method.
The prevalence of G6PD deficiency in southern Thailand was 6.1% (14/228) in males and 9.6% (28/292) in females. Two homozygous and 26 heterozygous G6PD deficiencies were found in females. G6PD Viangchan (871G>A) was the most common variant with 43%, followed by G6PD Mahidol (487G>A), 24% with an allele frequency of 0.025 and 0.012, respectively. Uncharacterized mutations existed in three samples. The study volunteers had anemia in 36.6% (107/292) females and 7.5% (17/228) males. Among G6PD deficiency subjects, only ten partial G6PD deficiency females had mild anemia.
This study suggests that the prevalence of G6PD deficiency in southern Thailand aligns with that of other parts of Thailand. Newborn screening for G6PD deficiency is recommended for personal information and medical reference to prevent acute hemolysis from oxidative stressors.
葡萄糖-6-磷酸脱氢酶（G6PD）是一种产生 NADPH 和保护细胞（尤其是红细胞）免受自由基侵害所必需的酶。药物、化学物质和感染引起的氧化应激会导致 G6PD 缺乏症患者的红细胞溶血，从而引发遗传性疾病。
本研究旨在提供更多关于泰国南部人群 G6PD 缺乏症的流行情况和 G6PD 变异体的信息。
本研究共纳入来自泰国南部 14 个府的 520 名健康受试者。采集 EDTA 抗凝血样本进行血液学参数研究、G6PD 缺乏症筛查和 G6PD 基因突变的分子研究。采用荧光斑点试验进行 G6PD 缺乏症筛查，等位基因特异性 PCR 法鉴定 G6PD 突变类型。
泰国南部男性 G6PD 缺乏症的患病率为 6.1%（14/228），女性为 9.6%（28/292）。女性中发现 2 例纯合和 26 例杂合 G6PD 缺乏症。最常见的变异是 G6PD Viangchan（871G>A），占 43%，其次是 G6PD Mahidol（487G>A），占 24%，等位基因频率分别为 0.025 和 0.012。在 3 个样本中存在未明确的突变。在 292 例女性中，有 36.6%（107/292）存在贫血，在 228 例男性中，有 7.5%（17/228）存在贫血。在 G6PD 缺乏症患者中，仅有 10 例部分 G6PD 缺乏症女性出现轻度贫血。
本研究表明，泰国南部 G6PD 缺乏症的流行情况与泰国其他地区相似。建议对新生儿进行 G6PD 缺乏症筛查，以便为个人提供信息和医学参考，预防氧化应激引起的急性溶血。
