Abstract
Objective:
We instituted a quality improvement process to enhance our capacity to diagnose genetic hemolytic conditions in neonates with extreme hyperbilirubinemia.
Study design:
During a 1-year period, whenever the total serum bilirubin (TSB) was >25 mg dl−1 a special evaluation was perfomed. If we deemed an erythrocyte membrane defect likely, based on red blood cell morphology, EMA-flow cytometry was performed. Otherwise ‘next-generation’ sequencing was performed using a panel of genes involved in neonatal hyperbilirubinemia.
Result:
Ten neonates had a TSB ⩾25 mg dl−1. Two others were evaluated as part of this process at the request of their attending neonatologists, because each had a TSB >14 mg dl−1 in the first hours after birth and required phototherapy for ⩾1 week. Explanations for the jaundice were found in all 12 neonates. Five had hereditary spherocytosis, three of which also had ABO hemolytic disease. Two had pyruvate kinase deficiency. One had severe G6PD deficiency. The other four had ABO hemolytic disease.
Conclusion:
On the basis of the present small case series, we suggest that among neonates with extreme hyperbilirubinemia, it can be productive to pursue a genetic basis for hemolytic disease.
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Acknowledgements
We thank M Jeffery Maisels, MB, BCh, DSc, Division of Neonatology, Department of Pediatrics, Oakland University, William Beaumont School of Medicine, Beaumont Children's Hospital, Royal Oak, MI, and Jon F Watchko, MD, Division of Newborn Medicine, Department of Pediatrics, University of Pittsburgh Medical Center and Magee-Women’s Research Institute, Pittsburgh, PA, for advice, helpful discussions and manuscript editing. We also thank Diane K Lambert, RN, Intermountain Healthcare research nurse, for preparing the figures and the institutional review board communications relevant to this report.
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Drs Nussenzveig and Agarwal are employees of ARUP Laboratories, the reference laboratory that, beginning in 2013, offered the EMA-flow testing, and expects to offer next-generation sequencing for evaluating extreme neonatal jaundice in the last quarter of 2014. The remaining authors declare no conflict of interest.
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Christensen, R., Nussenzveig, R., Yaish, H. et al. Causes of hemolysis in neonates with extreme hyperbilirubinemia. J Perinatol 34, 616–619 (2014). https://doi.org/10.1038/jp.2014.68
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DOI: https://doi.org/10.1038/jp.2014.68
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