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[Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome]
Elísio Costa1, Emilia Vieira, Esmeralda Cleto
1Serviço de Hematologia, Hospital Maria Pia, Serviços de Hematologia Clínica e Pediátrica, Hospital Geral de Santo António, Unidade de Genética Molecular, Instituto de Genética Doutor Jacinto de Magalhães, Porto.
Insights
Neonatal hyperbilirubinemia occurred in 90% of newborns with glucose-6-phosphate dehydrogenase (G6PD) deficiency, but abnormal UDP-glucoronosyltransferase-1 (UGT1A1) gene variants did not correlate with its incidence or severity.
Area of Science:
- Genetics
- Neonatology
- Biochemistry
Context:
- Neonatal hyperbilirubinemia is a common condition in newborns.
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited condition affecting red blood cells.
- UDP-glucoronosyltransferase-1 (UGT1A1) gene variants can affect bilirubin metabolism.
Purpose:
- To investigate the association between UGT1A1 gene variants and neonatal hyperbilirubinemia in G6PD-deficient newborns.
- To determine if UGT1A1 gene variants influence the incidence and severity of jaundice in this population.
Summary:
- This study analyzed UGT1A1 gene variants in 20 newborns with G6PD deficiency.
- Neonatal hyperbilirubinemia was observed in 90% of these infants.
- No significant association was found between abnormal UGT1A1 alleles and the incidence or severity of hyperbilirubinemia, even in cases of chronic nonspherocytic hemolytic anemia (CNSHA).
Impact:
- Highlights that UGT1A1 gene variants may not be the primary driver of neonatal hyperbilirubinemia in G6PD-deficient infants.
- Suggests other factors may contribute to jaundice severity in this vulnerable group.
- Informs clinical management and genetic counseling for G6PD-deficient newborns.
Abstract:
The aim of this work was to evaluate the influence of abnormal UDP-glucoronosyltransferase-1 (UGT1A1) gene variant, on the incidence and severity of neonatal hyperbilirubinemia, in glucose-6-phosphate dehydrogenase (G6PD) deficient newborns. The A(TA)nTAA region in the promoter of the UGT1A1 gene was analysed in 20 children with G6PD deficiency. Fourteen of these children had the African type variant (G6PDA-) and 6 had different variants (G6PDNara, G6PDGuadalajara, G6PDDurham, G6PDTomah, G6PDAveiro e G6PDNashville) related to chronic nonspherocytic haemolytic anaemia (CNSHA). The existence of a positive history of neonatal hyperbilirubinemia, as well as its severity was registered. The incidence of neonatal hyperbilirubinemia was increased in this group of children (90%) and was not associated with abnormal alleles of the UGT1A1 gene. It was not possible to assess the influence of abnormal alleles in the severity of the neonatal hyperbilirubinemia. However, these abnormal alleles did not account for the severity of jaundice in children who presented variants related to CNSHA, since 5 were treated with an exchange transfusion and none presented abnormal alleles.