Glucose-6-phosphate dehydrogenase variants in Kachin, Myanmar

초록

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive genetic disorder that can cause severe anemia in affected individuals exposed to oxidative stress. This risk is particularly relevant in patients treated with the antimalarial drug primaquine. In Myanmar, primaquine has been widely administered as a Plasmodium vivax malaria treatment; however, prevalence of G6PD deficiency among the population remains insufficiently characterized. This study investigated the prevalence of G6PD variants among various minority ethnic subgroups residing in Kachin State, Myanmar. Blood samples from 440 participants were analyzed; however, the Mahidol variant (G487A) was identified in 21 individuals (4.8%). A major limitation of this study was the absence of G6PD enzyme activity data to confirm whether the Mahidol variant induces G6PD deficiency.

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