Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency.

ABSTRACT:

Background

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common X-linked inherited erythroenzymopathy in Thailand. The clinical and hematological manifestations of G6PD deficiency are variable.

Objective

This study aimed to characterize the genotype-phenotype correlation of G6PD mutations in Thai pediatric patients who were followed-up in Phramongkutklao Hospital, a tertiary center in central Thailand. Material and Method. A total of 102 children including 73 males (71.6%) and 29 females (28.4%) were included in our study. Mutation analysis was performed by direct DNA sequencing of all coding exons of the G6PD gene. Ninety-one patients (89.2%) were presented with neonatal hyperbilirubinemia and 11 patients (10.8%) were presented with acute hemolytic

SUBMITTER: Boonyawat B 

PROVIDER: S-EPMC7886513 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature