Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 26, 2022; 10(15): 4923-4928
Published online May 26, 2022. doi: 10.12998/wjcc.v10.i15.4923
Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report
Pan Fu, Yang-Yang Jiao, Kai Chen, Jing-Bo Shao, Xue-Lian Liao, Jing-Wei Yang, Sha-Yi Jiang
Pan Fu, Yang-Yang Jiao, Xue-Lian Liao, Jing-Wei Yang, Sha-Yi Jiang, Department of Hematology and Oncology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai 200062, China
Kai Chen, Jing-Bo Shao, Department of Hematology and Oncology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai 200040, China
Author contributions: Fu P and Jiang SY analyzed the case and wrote and revised the manuscript; Jiao YY, Liao XL, and Yang JW helped collect the original data; All authors participated in the treatment of the patient.
Supported by the Natural Science Foundation of Shanghai Science Committee, No. 18ZR1431200; Research Foundation of Shanghai Municipal Health Commission, No. 20194Y0112; and Clinical Research Plan of SHDC, No. SHDC2020CR4089.
Informed consent statement: The parents of the patient consented to the publication of the case and any accompanying images with written consent.
Conflict-of-interest statement: The authors declare that they have no competing interests.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Sha-Yi Jiang, MD, PhD, Chief Physician, Department of Hematology and Oncology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, No. 355 Luding Road, Shanghai 200062, China. jiangshayi@163.com
Received: September 22, 2021
Peer-review started: September 22, 2021
First decision: January 10, 2022
Revised: January 23, 2022
Accepted: April 3, 2022
Article in press: April 3, 2022
Published online: May 26, 2022
Core Tip

Core Tip: We report a case of hereditary spherocytosis. The clinical manifestation and a mutation of ANK1 gene (exon23: c.G2467T:p.E823X) were assessed and related literature was reviewed. The information in this report may help with the diagnosis of hereditary spherocytosis.