Prevalence of G6PD deficiency and G6PD variants amongst the southern Thai population

Abstract

Background 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. Objectives This study aims to provide more information on G6PD deficiency prevalence and the G6PD variants in the southern Thai population. Methods 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. Results 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. Conclusions 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.

Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China

“…In addition, we are a region with a high prevalence of thalassemia, moreover, hemolysis and anemia are common ( Lin et al, 2015 ). Medication, hemolysis, and anemia can affect the detection of G6PD activity ( Nuinoon et al, 2022 ; Pfeffer et al, 2022 ). In our study, these may be one of the reasons that the 165 samples with no detection of any of the 33 common mutations.…”

Cytochrome P450 2D6 (CYP2D6) and glucose-6-phosphate dehydrogenase (G6PD) genetic variations in Thai vivax malaria patients: Implications for 8-aminoquinoline radical cure

“…Using DiaplexC G6PD genotyping kit (Asian type), they identified G6PD Mahidol and G6PD Viangchan with the frequency of 0.5% and 0.4% in vivax malaria patients (n = 545). Another study in healthy volunteers revealed that the prevalence of G6PD deficiency in southern Thailand was approximately 8% (42/520) and Yala province has G6PD deficiency of 3.33% (1/30) [ 64 ]. Thus, our results suggest that screening for G6PD deficiency prior to 8-aminoquinoline therapy is necessary in this region to avoid unexpected outcomes.…”

Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China

“…Currently, approximately over 500 million people worldwide are affected by G6PD deficiency. Nonetheless, there are significant regional and ethnic variations in the prevalence of G6PD deficiency, ranging from 0% in the indigenous American inhabitants to more than 20% in some areas of Africa and Asia ( Arain and Bhutani, 2014 ; Galatas et al, 2017 ; Nuinoon et al, 2022 ). Epidemiologically, G6PD deficiency is more prevalent in the populations of southern China, particularly in the Guangdong ( Liang et al, 2022 ), Guangxi ( Yan et al, 2006 ), Hainan ( Zeng et al, 2022 ), and Jiangxi ( Liu et al, 2020 ) provinces.…”