Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Yanbu, Saudi Arabia

Area of Science:

• Medical Genetics
• Neonatal Health
• Public Health Screening

Background:

• Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited red blood cell disorder.
• Neonatal jaundice is a frequent complication in infants with G6PD deficiency.
• Understanding the prevalence of G6PD deficiency is crucial for targeted newborn screening programs.

Purpose of the Study:

• To determine the prevalence of G6PD deficiency in newborns in Yanbu, Saudi Arabia.
• To evaluate the incidence of neonatal jaundice among infants diagnosed with G6PD deficiency.

Main Methods:

• A fluorescent spot test was used to screen 2,505 neonatal cord blood samples for G6PD deficiency.
• Infants were monitored for 72 hours post-birth for the development of jaundice.
• Data collection occurred over a two-year period (October 1996 - October 1998).

Main Results:

• The overall prevalence of G6PD deficiency was approximately 2% (50 out of 2,505 infants).
• The prevalence was higher in males (3.05%) than females (0.9%), with a male-to-female ratio of 3:1.
• Neonatal jaundice developed in 6 (12%) of the G6PD-deficient infants, all successfully treated with phototherapy.

Conclusions:

• The prevalence of G6PD deficiency in Yanbu is notably high.
• Routine neonatal screening for G6PD deficiency is recommended in Saudi Arabia, particularly in high-prevalence areas.
• Early detection and management of G6PD deficiency can prevent severe neonatal complications like jaundice.