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A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity

Authors
  • Bahr, Timothy M.
  • Lozano-Chinga, Michell
  • Agarwal, Archana M.
  • Meznarich, Jessica A.
  • Yost, Christian C.
  • Li, Peng
  • Reading, N. Scott
  • Prchal, Josef T.
  • Christensen, Robert D.
Type
Published Article
Journal
Neonatology
Publisher
S. Karger AG
Publication Date
Sep 28, 2020
Volume
117
Issue
4
Pages
532–535
Identifiers
DOI: 10.1159/000510300
PMID: 32987391
Source
Karger
Keywords
License
Green
External links

Abstract

We report a novel glucose-6-phosphate dehydrogenase (G6PD) variant (c.1375C>G) discovered in a 3-day-old Hispanic male child from Salt Lake City, UT, USA. This newborn presented with severe hyperbilirubinemia (29.8 mg/dL or 510 μmol/L) and marked hemolysis evidenced by elevated end-tidal carbon monoxide concentration (5.9 ppm, normal <1.7 ppm). Despite a very low prevalence of G6PD deficiency in Hispanic populations, we pursued testing for this condition and found he had low erythrocyte G6PD enzyme activity (2.8 U/g Hb, normal 9.9–16.6 U/g Hb) and a novel G6PD variant. His mother was heterozygous for this same variant, and she had a moderate decrease in G6PD enzyme activity (7.1 U/g Hb). On the basis of these findings, we propose this variant as a novel pathogenic mutation.

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