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Biochemical Measurement of Neonatal Hypoxia

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Quantitative neonatal glucose-6-phosphate dehydrogenase screening: distribution, reference values, and classification

Nurit Algur¹, Irit Avraham, Cathy Hammerman

¹Department of Neonatology, Shaare Zedek Medical Center, Jerusalem, Israel.

The Journal of Pediatrics

|April 13, 2012

Summary

This study establishes enzyme assay reference values for glucose-6-phosphate dehydrogenase (G6PD) deficiency in newborns from a Sephardic Jewish population. It provides distinct classifications for G6PD deficient and normal males and females, aiding in diagnosis.

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Published on: June 25, 2010

Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder.
Newborn screening is crucial for early detection and management.
Sephardic Jewish populations have a high prevalence of G6PD deficiency.

Purpose of the Study:

To establish enzyme assay reference values for G6PD in newborns from a Sephardic Jewish population.
To identify diagnostic criteria for G6PD deficiency in this at-risk group.
To inform clinical practice regarding G6PD screening in neonates.

Main Methods:

Quantitative G6PD testing was performed on umbilical cord blood samples.
G6PD activity was measured spectrophotometrically and reported as U/g Hb.
Hemoglobin levels were determined concurrently for accurate G6PD activity assessment.

Main Results:

Males were classified into G6PD deficient (<7 U/g Hb) and normal (≥9 U/g Hb) groups.
Females exhibited a continuum of G6PD values, categorized as deficient, normal, or intermediate.
Prevalence rates for G6PD deficiency were determined for both sexes in the neonatal cohort.

Conclusions:

Neonatal G6PD values can accurately identify the G6PD-deficient state in males.
Female G6PD values present a continuum, requiring classification based on male phenotypes for practical diagnosis.
Establishing population-specific reference values is essential for accurate G6PD deficiency screening.