PCR-based allelic discrimination for glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ugandan umbilical cord blood
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Jennifer Hsu1, Deanna Fink, Erica Langer
1Mayo Medical School , Rochester, Minnesota , USA.
Insights
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a common X-linked disorder, poses risks during infancy and after antimalarial drug exposure. A new PCR assay rapidly identifies G6PD deficiency alleles in East African newborns.
Area of Science:
- Genetics
- Molecular Biology
- Public Health
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most prevalent X-linked genetic disorder globally.
- It increases infant risk for hyperbilirubinemia and kernicterus, and severe hemolysis upon exposure to certain antimalarial drugs.
- Limited resources in developing regions hinder laboratory diagnosis of G6PD deficiency.
Purpose of the Study:
- To develop and evaluate a rapid TaqMan-based allele-specific PCR assay.
- To determine the frequencies of G6PD deficiency alleles (G202A and A376G) in East Africa.
Main Methods:
- Development of a TaqMan-based allele-specific assay.
- Testing of umbilical cord blood samples from 100 Ugandan newborns.
- Analysis of allele frequencies for G202A and A376G.
Main Results:
- The allele frequency of G202A was 0.13 and A376G was 0.32 in the study population.
- The overall incidence of G6PD A- (G202A/A376G) was 6%, observed exclusively in males.
- No significant correlation was found between G6PD deficiency and standard hematologic parameters in umbilical cord blood.
Conclusions:
- Allele-specific PCR offers a rapid and effective method for determining G6PD deficiency allele frequencies.
- This assay can serve as a valuable diagnostic tool in resource-limited hospital settings.
- The findings highlight the utility of molecular methods for population screening and clinical diagnosis of G6PD deficiency in East Africa.
Abstract:
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common X-linked disorder in the world. G6PD deficiency puts children at risk for hyperbilirubinemia and kernicterus during the newborn period and an increased risk of severe hemolysis after exposure to many antimalarial medications. A laboratory diagnosis of G6PD deficiency is rare in the developing world due to limited resources. We developed a TaqMan-based allele-specific assay to rapidly determine rates of G6PD deficiency contributing alleles (G202A and A376G) in East Africa. We tested umbilical cord blood from 100 Ugandan newborns and found that the overall allele frequency of G202A was .13 and A376G was .32. The overall incidence of G6PD A- (G202A/A376G) was 6%; all A- variants were males. There was no correlation between G6PD deficiency and umbilical cord blood hemoglobin, white blood count, platelet count, or other hematologic parameters. Allele-specific PCR can serve as a rapid method to determine specific G6PD deficiency allele frequencies in a given population and as a diagnostic tool in a hospital setting in which laboratory resources are present.
