Haptoglobin, Hemopexin, Hemoglobin and Hematocrit in Newborns with Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency

Meloni, T; Costa, Sinfarosa; Cutillo, S

doi:10.1159/000208087

Cited by 13 publications

(6 citation statements)

References 7 publications

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“…Hemoglobin and platelet levels were similar between G6PD deficient and unaffected neonates (14.0 g/dL versus 14.4 g/dL, p = 0.22; 268 x 10 3 /μL versus 253 x 10 3 /μL, p = 0.36; Fig 1D and 1E ), consistent with previous reports. [ 13 , 14 ] It is generally accepted that unless persons with G6PD deficiency are exposed to a pro-oxidant trigger, hemolysis is not observed. [ 15 ] Furthermore, several reports find that there is not necessarily any identifiable trigger for neonatal hyperbilirubinemia in G6PD deficient infants, and assessments of hemolysis just after birth do not correlate with total serum bilirubin levels.…”

Section: Resultsmentioning

confidence: 99%

Markers of oxidative stress in umbilical cord blood from G6PD deficient African newborns

et al. 2017

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder that affects as many as 400 million people worldwide, making it the most common enzymatic defect. Subjects with G6PD deficiency are more likely to develop neonatal hyperbilirubinemia potentially leading to kernicterus and are at increased risk for acute hemolytic anemia when exposed to pro-oxidant compounds such as anti-malarial drugs. We collected umbilical cord blood from 300 males born in Uganda to assess for novel markers of systemic oxidative stress. We determined that 10.7% of the samples collected were G6PD A- deficient (G202A/A376G) and when these were compared with unaffected controls, there was significantly higher 8-hydroxy-2’-deoxyguanosine (8-OHdG) concentration, elevated ferritin, increased leukocyte count and higher small molecule antioxidant capacity. These data suggest increased baseline oxidative stress and an elevated antioxidant response in umbilical cord blood of patients with G6PD deficiency.

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Section: Resultsmentioning

confidence: 99%

Markers of oxidative stress in umbilical cord blood from G6PD deficient African newborns

et al. 2017

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“…The frequency and severity of this complication is variable in dierent populations but the exact pathogenesis has not yet been clari®ed [9]. The presence of abnormal red cell morphology, mild anemia and reticulocytosis in some cases suggests that hemolysis could play a role, but impaired hepatic function, similar to that observed in normal newborns, is probably the major cause [5,8,12].…”

Section: Discussionmentioning

confidence: 99%

Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome

Galanello

Cipollina

Carboni

et al. 1999

European Journal of Pediatrics

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The pathogenesis of neonatal hyperbilirubinemia has not yet been completely defined in normal and glucose-6-phosphate-dehydrogenase (G6PD)-deficient newborns. The recent identification of a variant promoter in the gene encoding for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) associated with Gilbert's syndrome, allowed us to explore whether the presence of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficiency. We found that the variant (TA)7/(TA)7 promoter shows no statistically significant difference in normal or G6PD-deficient newborns developing severe hyperbilirubinemia and in control subjects from the same population. This finding indicates that the variant promoter of UGT-1 A does not contribute to the development of hyperbilirubinemia in the newborn.

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“…Thus, although the bilirubin load in G-6-PD-deficient neonates is increased, hyperbilirubinemia develops in only a fraction, and the presence or absence of jaundice is not related to the severity of hemolysis. Furthermore, these neonates usually do not develop frank anemia (13,14) even in the presence of severe hyperbilirubinemia. For these reasons, decreased bilirubin elimination has been suspected to be a key factor in the pathogenesis of the jaundice (1,15).…”

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confidence: 99%

Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia

Kaplan

Renbaum

Levy‐Lahad

et al. 1997

Proc. Natl. Acad. Sci. U.S.A.

315

168

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Severe jaundice leading to kernicterus or death in the newborn is the most devastating consequence of glucose-6-phosphate dehydrogenase (EC 1.1.1.49; G-6-PD) deficiency. We asked whether the TA repeat promoter polymorphism in the gene for uridinediphosphoglucuronate glucuronosyltransferase 1 (EC 2.4.1.17; UDPGT1), associated with benign jaundice in adults (Gilbert syndrome), increases the incidence of neonatal hyperbilirubinemia in G-6-PD deficiency. DNA from term neonates was analyzed for UDPGT1 polymorphism (normal homozygotes, heterozygotes, variant homozygotes), and for G-6-PD Mediterranean deficiency. The variant UDPGT1 promoter allele frequency was similar in G-6-PD-deficient and normal neonates. Thirty (22.9%) G-6-PD deficient neonates developed serum total bilirubin > 257 mol͞liter, vs. 22 (9.2%) normals (P ‫؍‬ 0.0005). Of those with the normal homozygous UDPGT1 genotype, the incidence of hyperbilirubinemia was similar in G-6-PD-deficients and controls (9.7% and 9.9%). In contrast, in the G-6-PD-deficient neonates, those with the heterozygous or homozygous variant UDPGT1 genotype had a higher incidence of hyperbilirubinemia than corresponding controls (heterozygotes: 31.6% vs. 6.7%, P < 0.0001; variant homozygotes: 50% vs. 14.7%, P ‫؍‬ 0.02). Among G-6-PD-deficient infants the incidence of hyperbilirubinemia was greater in those with the heterozygous (31.6%, P ‫؍‬ 0.006) or variant homozygous (50%, P ‫؍‬ 0.003) UDPGT1 genotype than in normal homozygotes. In contrast, among those normal for G-6-PD, the UDPGT1 polymorphism had no significant effect (heterozygotes: 6.7%; variant homozygotes: 14.7%). Thus, neither G-6-PD deficiency nor the variant UDPGT1 promoter, alone, increased the incidence of hyperbilirubinemia, but both in combination did. This gene interaction may serve as a paradigm of the interaction of benign genetic polymorphisms in the causation of disease.

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Haptoglobin, Hemopexin, Hemoglobin and Hematocrit in Newborns with Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency

Cited by 13 publications

References 7 publications

Markers of oxidative stress in umbilical cord blood from G6PD deficient African newborns

Markers of oxidative stress in umbilical cord blood from G6PD deficient African newborns

Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome

Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia

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