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

PeerJ

article

Manit Nuinoon¹  Rungnapha Krithong¹  Suputcha Pramtong¹  Piyawit Sasuk¹  Chompunuch Ngeaiad¹  Sathanan Chaimusik¹  Jiraporn Kanboonma¹  Orawan Sarakul¹ 

[1] Department of Medical Technology, School of Allied Health Sciences, Walailak University;Hematology and Transfusion Science Research Center ,(HTSRC), Walailak University

关键词: G6PD deficiency;    Hemolytic anemia;    Neonatal hyperbilirubinemia;    G6PD variants;    Southern Thai population;   

DOI  :  10.7717/peerj.14208

学科分类：社会科学、人文和艺术（综合）

来源: Inra

【 摘 要 】

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 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.

【 授权许可】

CC BY