Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a de novo ankyrin mutation: A case report

doi:10.12998/wjcc.v9.i19.5245

Advanced Search

BPG is committed to discovery and dissemination of knowledge

Home / Archive / Volume 9, Issue 19

This Article

Peer-Review Report of This Article

CrossCheck and Google Search of This Article

Academic Rules and Norms of This Article

Citation of this article

Corresponding Author of This Article

Research Domain of This Article

Article-Type of This Article

Open-Access Policy of This Article

Times Cited Counts in Google of This Article

Number of Hits and Downloads for This Article

Total Article Views (7577)

All Articles published online

The chart showing PDF series, WORD series, HTML series, Figures (1-2) series, Tables (1-1) series.

Item

Count

PDF

428

WORD

160

HTML

3702

Figures (1-2)

1052

Tables (1-1)

389

Sum=5731

Publishing Process of This Article

The chart showing Browse series, Download series.

Item

Count

Browse

562

Download

1291

Sum=1853

Jul 6, 2021 (publication date) through Mar 1, 2026

Times Cited of This Article

Times Cited (3)

Journal Information of This Article

Publication Name

World Journal of Clinical Cases

ISSN

2307-8960

Publisher of This Article

Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

- Full Article with Cover (PDF)
- Full Article (XML)

Case Report

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.

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).

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

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.

Keywords: Hereditary spherocytosis; Ankyrin; Neonate; Intractable neonatal jaundice; Case report

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.