Wang JF, Ma L, Gong XH, Cai C, Sun JJ. Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a de novo ankyrin mutation: A case report. World J Clin Cases 2021; 9(19): 5245-5251 [PMID: 34307574 DOI: 10.12998/wjcc.v9.i19.5245]
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Jul 6, 2021; 9(19): 5245-5251 Published online Jul 6, 2021. doi: 10.12998/wjcc.v9.i19.5245
Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a de novo ankyrin mutation: A case report
Jun-Fang Wang, Li Ma, Xiao-Hui Gong, Cheng Cai, Jing-Jing Sun
Jun-Fang Wang, Li Ma, Xiao-Hui Gong, Cheng Cai, Jing-Jing Sun, Department of Neonatology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China
Li Ma, Xiao-Hui Gong, Cheng Cai, Jing-Jing Sun, NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200062, China
Author contributions: Wang JF interpreted the data and wrote the manuscript; Sun JJ and Cai C collected clinical information and provided genetics counseling; Sun JJ and Ma L provided patient samples and determined the phenotype based on the clinical criteria; Wang JF analyzed the data; Gong XH and Ma L designed the study and revised the manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declared no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Received: January 30, 2021 Peer-review started: January 30, 2021 First decision: May 6, 2021 Revised: May 10, 2021 Accepted: May 19, 2021 Article in press: May 19, 2021 Published online: July 6, 2021 Processing time: 145 Days and 0.7 Hours
Abstract
BACKGROUND
Hereditary spherocytosis (HS) is a common type of hemolytic anemia caused by a red cell membrane disorder. HS type 1 (HS1) is mostly caused by mutations in ankyrin (ANK1). Newborns with HS1 usually only exhibit anemia and mild jaundice. We herein report a case of HS1 and discuss its clinical characteristics.
CASE SUMMARY
A 2-d-old male full-term newborn was admitted to our hospital with severe, intractable neonatal jaundice. Laboratory investigations showed hemolytic anemia and hyperbilirubinemia and excluded immune-mediated hemolysis. The patient underwent two exchange transfusions and one plasmapheresis resulting in significantly reduced serum bilirubin. Hematologic analyses and genomic DNA sequencing studies were performed. The trio clinical exome sequencing revealed a de novo null heterozygous mutation in the patient's ANK1 gene: c.841C > T(p.Arg281Ter). This mutation results in the premature termination of the ANK1 protein.
CONCLUSION
Our case demonstrates that genetic analysis can be an essential method for diagnosing HS when a newborn has severe hyperbilirubinemia.
Core Tip: Hereditary spherocytosis (HS) is a common type of hemolytic anemia caused by red cell membrane disorder. HS type 1 (HS1) typically results from mutations in ankyrin (ANK1). Newborns with HS1 usually only exhibit anemia and mild jaundice. This paper reports on a Chinese neonate who developed severe, intractable neonatal jaundice unrelated to immune-mediated hemolysis. The patient underwent two exchange transfusions and one plasmapheresis, which significantly reduced his extreme hyperbilirubinemia. Using trio clinical exome sequencing, we identified a de novo null heterozygous mutation in the patient's ANK1 gene: c.841C > T(p.Arg281Ter), which resulted in the premature termination of ANK1 protein.
