Causes of hemolysis in neonates with extreme hyperbilirubinemia.

Autor: Christensen RD; Women and Newborn's Clinical Program, Intermountain Healthcare, Salt Lake City, UT, USA., Nussenzveig RH; ARUP Laboratories and the Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Yaish HM; 1] Primary Children's Medical Center, Intermountain Healthcare, Salt Lake City, UT, USA [2] Division of Hematology/Oncology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Henry E; Women and Newborn's Clinical Program, Intermountain Healthcare, Salt Lake City, UT, USA., Eggert LD; Women and Newborn's Clinical Program, Intermountain Healthcare, Salt Lake City, UT, USA., Agarwal AM; ARUP Laboratories and the Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.
Jazyk: angličtina
Zdroj: Journal of perinatology : official journal of the California Perinatal Association [J Perinatol] 2014 Aug; Vol. 34 (8), pp. 616-9. Date of Electronic Publication: 2014 Apr 24.
DOI: 10.1038/jp.2014.68
Abstrakt: 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 performed. 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.
Databáze: MEDLINE
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