Abstract
BackgroundThe prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first-time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study.MethodsA total of 252 unrelated Lao Theung participants residing in the Lao People’s Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.ResultsThe G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62% (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13% (23/252). The prevalence of G6PD deficient males and females (activity < 30%) in the Lao Theung population was 6.41% (5/78) and 1.72% (3/174), respectively, and the prevalence of G6PD intermediate (activity 30–70%) was 5.95% (15/252).ConclusionsThe G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.
Highlights
The prevalence and genotypes of Glucose 6˗phosphate dehydrogenase (G6PD) deficiency vary worldwide, with higher prevalence in malaria endemic areas
The hemizygous males or homozygous females for the G6PD Aures mutation presented with a significant severe G6PD deficiency, whereas the
This study reports the development of amplification refractory mutation system (ARMS)-Polymerase chain reaction (PCR), which can detect the G6PD Aures in one PCR-electrophoresis step
Summary
The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. Glucose 6˗phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymopathy affecting. Most people with G6PD deficiency do not exhibit symptoms unless exposed to an oxidation-inducing agent or an infection [7]. G6PD deficiency causes a spectrum of acute or chronic hemolysis in affected individuals and causes neonatal jaundice, which can result in life-threatening kernicterus in newborns [8]. Persons with G6PD deficiency are more susceptible to red blood cell destruction when exposed to oxidative stress; these agents include oxidant drugs (e.g., sulfones and 8-aminoquinoline) and food (fava beans) [9]. Beyond anti-malarial drugs, G6PD deficiency is relevant to other medicines and infections, such as dengue or hepatitis virus, and has a risk of serious complications resulting from acute renal failure [11, 12]
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