He M, Lv YC, Wei YH, Liu LQ, Guo L, Li C. Complex heterozygous mutations in hereditary spherocytosis: A case report. World J Clin Cases 2024; 12(18): 3582-3588 [DOI: 10.12998/wjcc.v12.i18.3582]
Corresponding Author of This Article
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
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/
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 byThe 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
Abstract
BACKGROUND
The aim of this study was to investigate the complex heterozygous mutations of ANK1 and SPTA1 in the same individual and improve our understanding of hereditary spherocytosis (HS) in children. We also hope to promote the application of gene detection technology in children with HS, with the goals of identifying more related gene mutations, supporting the acquisition of improved molecular genetic information to further reveal the pathogenesis of HS in children, and providing important guidance for the diagnosis, treatment, and prevention of HS in children.
CASE SUMMARY
A 1-year and 5-month-old patient presented jaundice during the neonatal period, mild anemia 8 months later, splenic enlargement at 1 year and 5 months, and brittle red blood cell permeability. Genetic testing was performed on the patient, their parents, and sister. Swiss Model software was used to predict the protein structure of complex heterozygous mutations in ANK1 and SPTA1. Genetic testing revealed that the patient harbored a new mutation in the ANK1 gene from the father and a mutation in the SPTA1 gene from the mother. Combined with the clinical symptoms of the children, it is suggested that the newly discovered complex heterozygous mutations of ANK1 and SPTA1 may be the cause, providing important guidance for revealing the pathogenesis, diagnosis, treatment, and promotion of gene detection technology in children with HS.
CONCLUSION
This case involves an unreported complex heterozygous mutation of ANK1 and SPTA1, which provides a reference for exploring HS.
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.
