Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 26, 2024; 12(18): 3582-3588
Published online Jun 26, 2024. doi: 10.12998/wjcc.v12.i18.3582
Complex heterozygous mutations in hereditary spherocytosis: A case report
Miao He, Yan-Cheng Lv, Yu-Hong Wei, Lan-Qin Liu, Ling Guo, Cheng Li
Miao He, Lan-Qin Liu, Cheng Li, Department of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China
Yan-Cheng Lv, Yu-Hong Wei, Department of Clinic Medicine, Southwest Medical University, Luzhou 646099, Sichuan Province, China
Lan-Qin Liu, Ling Guo, Cheng Li, Sichuan Clinical Research Center for Birth Defects, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China
Co-first authors: Miao He and Yan-Cheng Lv.
Author contributions: He M contributed to conceptualization and manuscript writing; Lv YC collected and analyzed the data; Wei YH, Liu LQ, and Guo L were responsible for gene analysis; Li C guided manuscript writing. All authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Supported by The Science and Technology Department of Sichuan Province, No. 2021JDKP0015.
Informed consent statement: All study participants, or their legal guardian, provided informed verbal consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
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: Cheng Li, MD, Professor, Department of Pediatrics, The Affiliated Hospital of Southwest Medical University, No. 25 Taiping Street, Jiangyang District, Luzhou 646000, Sichuan Province, China. licheng1812@swmu.edu.cn
Received: February 23, 2024
Revised: April 13, 2024
Accepted: April 22, 2024
Published online: June 26, 2024
Processing time: 115 Days and 19.7 Hours
Core Tip

Core Tip: The patient was a 1-year and 5-month-old child with hereditary spherocytosis (HS) whose diagnosis was confirmed by genetic testing. The patient had complex heterozygous mutations in ANK1 and SPTA1 that have not been previously reported. Combined with the relevant clinical manifestations in the children, it is suggested that the newly discovered complex heterozygous mutation of ANK1 gene and SPTA1 gene may be the cause of this disease and provide more molecular genetic information revealing the pathogenesis of HS in children. In addition, we hope to promote the application of genetic testing technology in children with HS and provide guidance for its diagnosis, treatment, and prevention.