Abstract
The objective was to compare the contribution to perinatal bilirubinemia of hemolysis and UDP-glucuronosyltransferase (UGT) gene promoter polymorphism, seen in Gilbert's syndrome, between glucose-6-phosphate dehydrogenase (G-6-PD)-deficient and -normal neonates. Serum total bilirubin (STB) values from 52 G-6-PD-deficient and 166 G-6-PD-normal term, male neonates, sampled within 3 h of delivery (first sample) and on d 3 (second sample), were analyzed in relation to blood carboxyhemoglobin corrected for inspired CO (COHbc), an accurate index of hemolysis, and UGT promoter genotype. COHbc values (% total Hb) were greater in G-6-PD-deficient neonates than controls: first sample 1.00 ± 0.25%versus 0.84 ± 0.24%, p < 0.0001; second sample 0.83 ± 0.20%versus 0.76 ± 0.19%, p = 0.002. First sample COHbc and STB values did not correlate in either the G-6-PD-deficient or control groups, whereas second sample COHbc values correlated significantly with corresponding STB values in the control population only (r = 0.28, p = 0.0007). At second sampling, there was a higher allele frequency of the variant UGT promoter among those with STB values ≥75th percentile than those <75th among the G-6-PD-deficient neonates (0.60 versus 0.33, respectively, p = 0.025), but not controls (0.31 versus 0.40, respectively, p = 0.24). Among those infants with at least one variant UGT promoter allele, STB values were higher in the G-6-PD-deficient neonates than controls at second sampling only (181 ± 56 μM versus 149 ± 46 μM, respectively, p = 0.03). Both within and between the G-6-PD-deficient and control groups, our data demonstrate changing and differing contributions of hemolysis and UGT promoter polymorphism to bilirubinemia during the first 3 d of life.
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Abbreviations
- COHb:
-
carboxyhemoglobin
- COHbc:
-
carboxyhemoglobin corrected for inspired carbon monoxide
- G-6-PD:
-
glucose-6-phosphate dehydrogenase
- RBC:
-
red blood cell
- STB:
-
serum total bilirubin
- tHb:
-
total Hb
- UGT:
-
UDP-glucuronosyltransferase 1A1
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Acknowledgements
The authors thank Ernest Beutler, M.D., of The Scripps Research Institute, La Jolla, CA, for the genotype analysis of G-6-PD Mediterranean mutation, and for review of the manuscript. We also thank Chana Amsalem, Gaya Klein, and Ronald J. Wong for technical assistance.
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Supported at Shaare Zedek Medical Center by grants for neonatal jaundice research from The Golden Charitable Trust, London, UK, and the Mirsky Research Fund, and at Stanford University Medical Center by The National Institutes of Health Grant RR00070, The Mary L Johnson Research Fund, The Hess Research Fund, and The LHM Lui Research Fund.
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Kaplan, M., Hammerman, C., Renbaum, P. et al. Differing Pathogenesis of Perinatal Bilirubinemia in Glucose-6-Phosphate Dehydrogenase-Deficient Versus-Normal Neonates. Pediatr Res 50, 532–537 (2001). https://doi.org/10.1203/00006450-200110000-00018
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DOI: https://doi.org/10.1203/00006450-200110000-00018
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