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

Manit Nuinoon; Rungnapha Krithong; Suputcha Pramtong; Piyawit Sasuk; Chompunuch Ngeaiad; Sathanan Chaimusik; Jiraporn Kanboonma; Orawan Sarakul

doi:10.7717/peerj.14208

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

PeerJ. 2022 Oct 10:10:e14208. doi: 10.7717/peerj.14208. eCollection 2022.

Authors

Manit Nuinoon^{1

2}, Rungnapha Krithong¹, Suputcha Pramtong¹, Piyawit Sasuk¹, Chompunuch Ngeaiad¹, Sathanan Chaimusik¹, Jiraporn Kanboonma¹, Orawan Sarakul^{1

2}

Affiliations

¹ Department of Medical Technology, School of Allied Health Sciences, Walailak University, Thasala, Nakhon Si Thammarat, Thailand.
² Hematology and Transfusion Science Research Center (HTSRC), Walailak University, Thasala, Nakhon Si Thammarat, Thailand.

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.

Keywords: G6PD deficiency; G6PD variants; Hemolytic anemia; Neonatal hyperbilirubinemia; Southern Thai population.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Female
Glucosephosphate Dehydrogenase / genetics
Glucosephosphate Dehydrogenase Deficiency* / epidemiology
Hemolysis
Humans
Infant, Newborn
Male
Prevalence
Southeast Asian People
Thailand / epidemiology

Substances

Glucosephosphate Dehydrogenase

Grants and funding

This work was supported by the Postgraduate scholarship for Outstanding Students under Grant number 07/2560; 07/2562; and the Institutes of Research and Innovation, Walailak University under grant number WU_IRG61_18. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.