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Cord blood G-6-PD activity by quantitative enzyme assay and fluorescent spot test in Chinese neonates
Insights
Screening for Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in Chinese neonates using the fluorescent spot test identified a 4.4% incidence in males. While effective for hemizygotes, the test has limitations in detecting heterozygotes.
Area of Science:
- Genetics
- Biochemistry
- Neonatal Medicine
Background:
- Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a prevalent X-linked recessive genetic disorder, particularly in Chinese populations.
- Neonatal screening is crucial for preventing severe hemolytic disease and kernicterus in affected infants.
Purpose of the Study:
- To evaluate the incidence of G-6-PD deficiency in Chinese neonates.
- To assess the efficacy of the fluorescent spot test for neonatal screening of G-6-PD deficiency.
Main Methods:
- A fluorescent spot test was performed on cord blood samples from 1228 Chinese neonates.
- Direct enzyme assays were used for simultaneous confirmation and comparison.
Main Results:
- The incidence of G-6-PD deficiency was found to be 4.4% in males and 0.35% in females.
- The fluorescent spot test demonstrated high sensitivity and specificity for identifying male hemizygotes and female homozygotes.
- The spot test was less effective in detecting heterozygotes, with quantitative assays identifying only 70% of partially deficient subjects.
Conclusions:
- The fluorescent spot test is a valuable tool for screening G-6-PD deficiency in neonates, particularly for identifying hemizygous males.
- Further improvements or complementary methods are needed to enhance the detection of G-6-PD deficient heterozygotes.
Abstract:
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a common X-linked recessive disorder among the Chinese population. Neonatal screening for this condition is important and with necessary precaution, enzyme deficient infants are less likely to develop severe haemolysis and subsequent kernicterus. Screening of G-6-PD deficiency by fluorescent spot test on cord blood samples of 1228 Chinese neonates revealed an incidence of 4.4% in males and 0.35% in females. Simultaneous direct enzyme assay confirmed the sensitivity and specificity of the spot test in the identification of male hemizygotes and female homozygotes. However, the spot test was unsatisfactory in detecting heterozygotes. Even quantitative enzyme assay could detect only 70% of the partially deficient subjects.