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Updated: Feb 9, 2026
A Piglet Model of Neonatal Hypoxic-Ischemic Encephalopathy
Published on: May 16, 2015
Acute neonatal bilirubin encephalopathy in the State of Utah 2009-2018
Robert D Christensen1, Archana M Agarwal2, Tracy I George2
1Division of Neonatology, University of Utah, Salt Lake City, UT, USA; Women and Newborn's Clinical Program, Intermountain Healthcare, Salt Lake City, UT, USA; Division of Hematology/Oncology, University of Utah, Salt Lake City, UT, USA.
Insights
This study investigated seven newborns with acute bilirubin encephalopathy (ABE) in Utah. Hemolytic disease, including genetic mutations and immune-related hemolysis, was identified as a common cause, paving the way for future prevention strategies.
Area of Science:
- Neonatology
- Genetics
- Pediatric Neurology
Background:
- Acute bilirubin encephalopathy (ABE) poses a risk to newborns, with unclear causes in many reported cases.
- Identifying common features of ABE is crucial for developing effective prevention strategies.
Purpose of the Study:
- To define common features of ABE in a series of seven newborn infants in Utah.
- To investigate potential genetic and hemolytic causes of hyperbilirubinemia leading to ABE.
Main Methods:
- Established a state-wide voluntary registry for ABE cases.
- Conducted next-generation DNA sequencing on a panel of 28 genes related to bilirubin metabolism.
- Performed standard testing for hemolytic disease.
Main Results:
- Identified hemolytic disease as a unifying feature in all seven cases.
- Two infants had DAT (+) Anti-D or anti-c hemolysis.
- Five infants had newly identified mutations in bilirubin production/metabolism genes.
Conclusions:
- Hemolytic disease, encompassing both immune-mediated and genetic factors, is a significant underlying cause of ABE.
- Genetic testing for bilirubin metabolism genes can reveal previously unrecognized causes of hyperbilirubinemia.
- Further research into these genetic and hemolytic pathways is warranted for ABE prevention.
Abstract:
Herein we report a case series of seven newborn infants, all apparently well at birth, who in the period since 2009 were cared for in the State of Utah with acute bilirubin encephalopathy (ABE). This report summarizes our attempts to define common features of these seven through a state-wide voluntary registry, as a step toward devising new means of preventing such cases in the future. In previous reports of ABE, many of the affected neonates had no clearly defined explanation for their progressive hyperbilirubinemia. Our efforts to identify clear explanations in all seven cases included next generation DNA sequencing, testing a panel of 28 genes involved in bilirubin production and metabolism. We found that hemolytic disease was a unifying feature of these seven; two had DAT (+) Anti-D or anti-c hemolysis, while five had confirmed mutations in genes involved in bilirubin production and or metabolism that were previously unrecognized in these families.
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