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Neonatal screening for glucose-6-phosphate dehydrogenase deficiency: sex distribution
M Kaplan1, C Hammerman, R Kvit
1Department of Neonatology, Shaare Zedek Medical Center, Jerusalem, Israel.
Insights
Severe glucose-6-phosphate dehydrogenase (G-6-PD) deficiency was found in 30.2% of high-risk boys and 10.4% of high-risk girls. Screening girls of mothers with high G-6-PD deficiency risk is recommended, irrespective of paternal ethnicity.
Area of Science:
- Medical Genetics
- Neonatal Screening
- Enzyme Deficiencies
Background:
- Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a common inherited red blood cell disorder.
- Newborn screening is crucial for early detection and management of G-6-PD deficiency.
- Genetic factors and ethnicity influence the prevalence of G-6-PD deficiency.
Purpose of the Study:
- To determine the prevalence of severe G-6-PD deficiency in high-risk newborn infants.
- To evaluate the necessity of G-6-PD screening for female infants based on maternal risk factors.
Main Methods:
- Screening of 806 newborn infants at high risk for G-6-PD deficiency.
- Analysis of G-6-PD enzyme levels in affected infants.
- Assessment of paternal ethnic background in enzyme-deficient female infants.
Main Results:
- Severe G-6-PD deficiency was identified in 30.2% of boys and 10.4% of girls.
- A significant proportion (14%) of enzyme-deficient girls had fathers from low-risk ethnic groups.
- Maternal G-6-PD deficiency risk appears to be a stronger predictor than paternal ethnicity for affected daughters.
Conclusions:
- Newborn infants, particularly males, exhibit a high prevalence of severe G-6-PD deficiency.
- Screening for G-6-PD deficiency in female infants is recommended, even if the father is from a low-risk ethnic group.
- Maternal G-6-PD deficiency status should guide screening recommendations for daughters.
Abstract:
Eight hundred and six newborn infants at high risk for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were screened; 30.2% of the boys and 10.4% of the girls had severe G-6-PD deficiency. Surprisingly, 14% of the enzyme deficient girls had a father from a low risk ethnic group. Girls of high risk mothers should be screened for G-6-PD deficiency regardless of paternal origin.