Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations.

ABSTRACT: Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzymatic defect. The purpose of this study was to evaluate the profile of G6PD deficiency and investigate the factors associated with the accuracy of newborn screening (NBS) in Xiamen, China. Methods: A total of 99,546 newborns were screened by modified fluorescent spot test at the Women and Children's Hospital, Xiamen University. High-risk neonates were recalled for diagnosis by either a measurement of G6PD activity or genetic testing for the presence of pathogenic G6PD variants using a quantitative G6PD enzymatic assay or the MeltPro® G6PD assay, respectively. Results: In the first-tier screening, 1,256 newborns were categorized as high risk. Of these, 1,051 were diagnosed w

SUBMITTER: Wang X 

PROVIDER: S-EPMC8517332 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature