Fu P, Jiao YY, Chen K, Shao JB, Liao XL, Yang JW, Jiang SY. Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report. World J Clin Cases 2022; 10(15): 4923-4928 [PMID: 35801015 DOI: 10.12998/wjcc.v10.i15.4923]
Corresponding Author of This Article
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
Research Domain of This Article
Hematology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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. 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 bythe 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
Abstract
BACKGROUND
Hereditary spherocytosis (HS) is characterized by anemia, jaundice, splenomegaly, and cholelithiasis, and is caused by abnormal genes encoding red blood cell membrane components. The most common mutations found in HS are in the ANK1 gene.
CASE SUMMARY
A 4-mo-old girl was admitted to our hospital with pallor that had lasted for more than 2 mo. She presented with jaundice, anemia and splenomegaly. A heterozygous mutation of ANK1 (exon23: c.G2467T:p.E823X) was identified, and the mutation was determined to be autosomal dominant. This mutation is linked to the relatively serious anemia she had after birth; this anemia improved with age.
CONCLUSION
The utilization of next-generation sequencing may assist with the accurate diagnosis of HS, especially in atypical cases.
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.
