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

Background: Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme essentialfor 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.

Automated summary

This study investigated the prevalence and variants of G6PD deficiency in the southern Thai population, revealing a 6.1% prevalence in males and 9.6% prevalence in females. The most common mutations were G6PD Viangchan (871G>A) and G6PD Mahidol (487G>A). The findings highlight the importance of newborn screening to prevent acute hemolysis.