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Genetic Factors and Delayed TSB Monitoring and Treatment as Risk Factors Associated with Severe Hyperbilirubinemia in

Nem-Yun Boo1, Shwe Sin2, Seok-Chiong Chee3

  • 1Department of Population Medicine, Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Bandar Sungai Long, Selangor, Malaysia.

Journal of Tropical Pediatrics
|June 25, 2020
PubMed

Insights

Genetic factors and delayed bilirubin testing significantly increase the risk of severe neonatal hyperbilirubinemia (SNH). Early measurement of total serum bilirubin (TSB) and prompt phototherapy are crucial for managing jaundice in newborns.

Area of Science:

  • Neonatal Medicine
  • Medical Genetics
  • Pediatric Gastroenterology

Background:

  • Severe neonatal hyperbilirubinemia (SNH) is a critical condition in term newborns.
  • Identifying risk factors is essential for timely intervention and prevention of complications.

Purpose of the Study:

  • To investigate the association between various factors and SNH in jaundiced term neonates.
  • To determine the role of genetic predispositions (G6PD, UGT1A1, SLCO1B1 variants) and clinical factors in SNH.

Main Methods:

  • A cohort of 1121 jaundiced term neonates admitted for phototherapy was studied.
  • Data on clinical factors were collected via caregiver interviews.
  • Genetic variants in G6PD, UGT1A1, and SLCO1B1 were analyzed using PCR-RFLP.

Main Results:

  • Delayed total serum bilirubin (TSB) measurement and admission age were significant risk factors for SNH.
  • Specific genetic variants in UGT1A1 (promoter A(TA)7TAA, c.686C>A) and SLCO1B1 (c.388G>A) were strongly associated with SNH.
  • Glucose-6-phosphate dehydrogenase (G6PD) variants also increased the risk of SNH.

Conclusions:

  • Genetic predisposition, delayed TSB measurement, and delayed phototherapy initiation are significant risk factors for SNH.
  • These findings highlight the importance of genetic screening and timely clinical management for neonatal jaundice.
Abstract

Keywords:
age when first TSB was measuredgenetic predispositionrisk factorssevere neonatal hyperbilirubinemia

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