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Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency in Sichuan, China

Jing Zhang, Yali Cui, Xia Wang

    Clinical Laboratory
    |May 9, 2018
    PubMed

    Insights

    This study screened 20,644 newborns in China for glucose-6-phosphate dehydrogenase (G6PD) deficiency, finding a prevalence of 2.4%. Factors like season and temperature can affect screening test results.

    Area of Science:

    • Medical Genetics
    • Neonatal Screening
    • Public Health

    Background:

    • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder.
    • Newborn screening is crucial for early detection and management of G6PD deficiency.
    • Understanding regional prevalence and influencing factors is vital for effective public health strategies.

    Purpose of the Study:

    • To screen newborns in southwestern China for G6PD deficiency.
    • To characterize the occurrence and prevalence of G6PD deficiency.
    • To analyze factors influencing neonatal G6PD screening test results.

    Main Methods:

    • A universal newborn screening program evaluated 20,644 infants.
    • Heel prick blood samples were collected approximately 72 hours after birth and dried on filter paper.
    • The fluorescent spot test was used to detect G6PD deficiency.

    Main Results:

    • A total of 503 newborns tested positive for G6PD deficiency, yielding an overall prevalence of 2.4%.
    • Prevalence was higher in males (2.7%) than females (2.1%).
    • Factors such as season, temperature, and specimen storage time can impact test accuracy.

    Conclusions:

    • The study determined the prevalence of G6PD deficiency in Sichuan, China.
    • Optimizing sample delivery and ensuring timely results are essential for effective screening and diagnosis.
    • Improving quality control measures can mitigate external factors affecting G6PD testing.
    Abstract

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