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[Hereditary glucose-6-phosphate dehydrogenase deficiency in newborn infants]

T A Askerova, B R Kichibekov, K M Movsum-zade

    Pediatriia
    |January 1, 1992
    PubMed

    Insights

    Early diagnosis of glucose 6-phosphate dehydrogenase deficiency in newborns is crucial. This study reveals a significant prevalence of this enzyme deficiency in Azerbaijan, linked to various hemoglobinopathies.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Glucose 6-phosphate dehydrogenase (G6PD) deficiency is a common inherited red blood cell disorder.
    • Early detection is vital to prevent hemolytic anemia, especially in newborns.
    • Understanding prevalence and associations is key for public health strategies.

    Purpose of the Study:

    • To establish normal glucose 6-phosphate dehydrogenase enzyme activity levels in healthy newborns.
    • To determine the prevalence of G6PD deficiency in a neonate population in Azerbaijan.
    • To investigate the association between G6PD deficiency and hemoglobinopathies.

    Main Methods:

    • Analysis of 428 umbilical cord blood samples from neonates.
    • Enzyme activity assays for glucose 6-phosphate dehydrogenase.
    • Pedigree analysis for 37 neonates to confirm hereditary character.
    • Screening for various hemoglobinopathies.

    Main Results:

    • Established normal enzyme activity ranges considering national and sexual variations.
    • Identified a considerable prevalence of G6PD deficiency in Azerbaijan (phenotypic frequency 8.64%, gene frequency 0.0623).
    • Found associations between G6PD deficiency and alpha-thalassemia, beta-thalassemia, hemoglobin S, and methemoglobinemia.

    Conclusions:

    • The study provides the first evidence of a significant prevalence of G6PD deficiency in Azerbaijan.
    • Early diagnosis and genetic counseling are recommended for neonates in this region.
    • G6PD deficiency is frequently associated with other inherited blood disorders, necessitating comprehensive screening.

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