Distribution of G6PD deficiency genotypes among Southeast Asian populations

• Published in: Tropical Medicine and Health
• Main Authors: Indah S. Tantular, Fumihiko Kawamoto
• Format: Article in Journal/Newspaper
• Language: English
• Published: BMC 2021
• Subjects: Glucose-6-phosphate dehydrogenase; G6PD deficiency; Genotype; Distribution; Southeast Asian population; Arctic medicine. Tropical medicine; RC955-962; Arctic
• Online Access: https://doi.org/10.1186/s41182-021-00387-z; https://doaj.org/article/529c086b40ad4bd4bdd3b3410e56270c

Abstract Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a group of X-linked, hereditary genetic disorders caused by mutations in the G6PD gene and results in functional variants of about 400 biochemical and clinical phenotypes. Among them, more than 215 genotypes have been identified so far. In this review, specific features of the genotype distribution in different communities and countries are discussed based on multiple reports and our molecular epidemiological studies of Southeast Asian countries. Particularly, in Indonesia, the frequency distribution of G6PD deficiency variants was distinct between western and eastern Indonesian populations, suggesting two different gene flows during Indonesian expansions.