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©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 6, 2021; 9(19): 5245-5251
Published online Jul 6, 2021. doi: 10.12998/wjcc.v9.i19.5245
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, 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.
Supported by Shanghai Jiao Tong University “Jiao Tong Star” Medical-Industrial Cross-Research Fund , No. YG2019ZDA01 ; Shanghai Key Clinical Specialty Project , No. shslczdzk05705 .
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/
Corresponding author: Jing-Jing Sun, MD, Chief Physician, Department of Neonatology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, No. 355 Luding Road, Putuo District, Shanghai 200062, China. sunjj@shchildren.com.cn
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
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
Core Tip
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.