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[Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood]

F Kaddari1, M Sawadogo, J Sancho

  • 1Laboratoire d'immunologie-biochimie, Centre hospitalier Delafontaine, 93205 Saint-Denis.

Annales De Biologie Clinique
|August 7, 2004
PubMed

Insights

Glucose-6-phosphate dehydrogenase (G6PD) deficiency screening is crucial for newborns, especially in at-risk populations. A new automated blood test using umbilical cord blood was developed to detect this common enzyme deficiency.

Area of Science:

  • Biochemistry
  • Genetics
  • Neonatology

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme disorder globally.
  • It is a sex-linked genetic condition primarily affecting African, Mediterranean, and Far-Eastern populations.
  • Clinical manifestations include hemolytic anemia and neonatal jaundice.

Purpose of the Study:

  • To develop and validate an automated blood screening test for G6PD deficiency in neonates.
  • To establish normal reference values for G6PD and ASAT in umbilical cord blood.
  • To determine the genetic frequency of G6PD deficiency in newborns.

Main Methods:

  • Development of an automated assay for G6PD enzyme activity.
  • Utilization of red blood cell aspartate-amino-transferase (ASAT) as a reference enzyme to assess red blood cell age.
  • Analysis of 235 umbilical cord blood samples to calculate normal values and frequency.

Main Results:

  • Established normal ranges for G6PD, ASAT, and the G6PD/ASAT ratio in cord blood.
  • Determined the genetic frequency of G6PD deficiency to be 6% in males and 1% in females in 2002.
  • Successfully automated the G6PD assay for efficient neonatal screening.

Conclusions:

  • The developed automated test is suitable for neonatal screening of G6PD deficiency.
  • Neonatal screening for G6PD deficiency is essential, particularly in populations with a high prevalence.
  • The study provides baseline data on G6PD deficiency frequency in newborns.

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