PCR-based allelic discrimination for glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ugandan umbilical cord blood

Jennifer Hsu, Deanna Fink, Erica Langer, Michelle L. Carter, Derrik Bengo, Susan Ndidde, Tina Slusher, Julie A. Ross, Troy C. Lund

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)68-75
Number of pages8
JournalPediatric hematology and oncology
Volume31
Issue number1
DOIs
StatePublished - Feb 1 2014

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Glucosephosphate Dehydrogenase Deficiency
Fetal Blood
Polymerase Chain Reaction
Alleles
Gene Frequency
Kernicterus
Newborn Infant
Eastern Africa
Hyperbilirubinemia
Clinical Laboratory Techniques
Antimalarials
Hemolysis
Platelet Count
Hemoglobins
Incidence
Population

Keywords

  • Africa
  • Allele-specific PCR
  • G6PD deficiency
  • Uganda
  • Umbilical cord blood

Cite this

PCR-based allelic discrimination for glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ugandan umbilical cord blood. / Hsu, Jennifer; Fink, Deanna; Langer, Erica; Carter, Michelle L.; Bengo, Derrik; Ndidde, Susan; Slusher, Tina; Ross, Julie A.; Lund, Troy C.

In: Pediatric hematology and oncology, Vol. 31, No. 1, 01.02.2014, p. 68-75.

Research output: Contribution to journalArticle

Hsu, Jennifer ; Fink, Deanna ; Langer, Erica ; Carter, Michelle L. ; Bengo, Derrik ; Ndidde, Susan ; Slusher, Tina ; Ross, Julie A. ; Lund, Troy C. / PCR-based allelic discrimination for glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ugandan umbilical cord blood. In: Pediatric hematology and oncology. 2014 ; Vol. 31, No. 1. pp. 68-75.
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