Distribution of G6PD deficiency genotypes among Southeast Asian populations

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....

Full description

Bibliographic Details
Published in:Tropical Medicine and Health
Main Authors: Indah S. Tantular, Fumihiko Kawamoto
Format: Article in Journal/Newspaper
Language:English
Published: BMC 2021
Subjects:
Online Access:https://doi.org/10.1186/s41182-021-00387-z
https://doaj.org/article/529c086b40ad4bd4bdd3b3410e56270c
Description
Summary: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.