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Published on: June 25, 2010

Screening of jaundiced neonates for glucose-6-phosphate dehydrogenase deficiency

A K Leung

    Southern Medical Journal
    |February 1, 1987
    PubMed

    Insights

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency, typically X-linked, was unexpectedly common in female infants. Researchers recommend G6PD screening for all jaundiced newborns, regardless of sex, due to high prevalence in girls.

    Area of Science:

    • Medical Genetics
    • Neonatal Medicine
    • Pediatric Hematology

    Background:

    • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder.
    • This inheritance pattern suggests female infants are rarely affected.
    • Jaundice is a common symptom in newborns with G6PD deficiency.

    Purpose of the Study:

    • To investigate the frequency of G6PD deficiency in jaundiced newborn infants.
    • To determine if the prevalence of G6PD deficiency in female infants is higher than expected.
    • To inform recommendations for G6PD screening in newborns.

    Main Methods:

    • Retrospective review of medical records.
    • Screening of 1,478 jaundiced newborn infants (728 boys, 750 girls) for G6PD deficiency.
    • Analysis of G6PD deficiency prevalence by sex.

    Main Results:

    • G6PD deficiency was identified in 5.6% of boys and 2.2% of girls.
    • The observed frequency in female infants was higher than anticipated.
    • A significant number of female infants presented with G6PD deficiency.

    Conclusions:

    • The high frequency of G6PD deficiency in female infants is unexplained.
    • Screening for G6PD deficiency should be considered in selected jaundiced infants.
    • Screening recommendations should include infants of both sexes, irrespective of gender.

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