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Neonatal screening for glucose-6-phosphate dehydrogenase deficiency: biochemical versus genetic technologies
Michael Kaplan1, Cathy Hammerman
1Department of Neonatology, Shaare Zedek Medical Center, Jerusalem, Israel. kaplan@cc.huji.ac.il
Insights
Neonatal screening for Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is crucial for preventing severe health issues. Current screening methods face challenges, especially in accurately identifying affected females, necessitating careful technology assessment.
Area of Science:
- Genetics
- Neonatal Medicine
- Biochemistry
Background:
- Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a prevalent genetic disorder.
- In neonates, G-6-PD deficiency can lead to severe hemolytic episodes, hyperbilirubinemia, and bilirubin encephalopathy.
- Early detection through neonatal screening can significantly reduce mortality and morbidity.
Purpose of the Study:
- To highlight the importance of neonatal screening for G-6-PD deficiency.
- To discuss the challenges in accurately screening G-6-PD deficiency, particularly in females.
- To review various screening methodologies and their suitability for different populations.
Main Methods:
- Biochemical qualitative assays
- Quantitative enzymatic activity measurements
- DNA-based polymerase chain reaction (PCR) molecular screening
Main Results:
- Males with G-6-PD deficiency can be accurately identified.
- Screening females is more complex due to heterozygote phenotype overlap.
- The choice of screening technology requires careful assessment of cost, equipment, training, and diagnostic accuracy.
Conclusions:
- Neonatal screening programs for G-6-PD deficiency are essential for improving infant health outcomes.
- Addressing the challenges in female G-6-PD deficiency screening is critical for comprehensive public health strategies.
- The selection of appropriate screening technologies must be tailored to specific population needs and resource availability.
Abstract:
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, a commonly occurring genetic condition, is associated in neonates with severe hemolytic episodes, extreme hyperbilirubinemia, and bilirubin encephalopathy. Neonatal screening programs for the condition should increase parental and caretaker awareness, thereby facilitating early access to treatment with resultant diminished mortality and morbidity. However, screening for G-6-PD deficiency is not widely performed. Although G-6-PD-deficient males may be accurately identified, females are more difficult to categorize because many in this group may be heterozygotes with phenotype overlap between normal homozygotes, heterozygotes, and deficient homozygotes. Screening methodologies include biochemical qualitative assays, quantitative enzymatic activity measurements and DNA-based polymerase chain reaction molecular screening. The appropriateness of any of these technologies for any particular population group or geographic area must be assessed before setting up a screening program. The pros and cons of each method, including ease of testing, cost, need for sophisticated laboratory equipment and degree of personnel training, as well as the ability to identify females, are discussed.
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