Publication Name	World Journal of Clinical Cases
Manuscript ID	93282
Country	China

Received	2024-02-23 15:28
Peer-Review Started	2024-02-23 15:28
To Make the First Decision
Return for Revision	2024-04-04 08:26
Revised	2024-04-13 08:21
Second Decision	2024-04-22 02:53
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2024-04-22 07:57
Articles in Press	2024-04-22 07:57
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2024-06-03 05:44
Publish the Manuscript Online	2024-06-18 09:29

ISSN	2307-8960 (online)
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Category	Hematology
Manuscript Type	Case Report
Article Title	Complex heterozygous mutations in hereditary spherocytosis: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Miao He, Yan-Cheng Lv, Yu-Hong Wei, Lan-Qin Liu, Ling Guo and Cheng Li
ORCID	Author(s) ORCID Number Cheng Li http://orcid.org/0009-0006-1311-0710
Funding Agency and Grant Number
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
Key Words	Hereditary spherocytosis; Complex heterozygous mutations; ANK1; SPTA1; Gene detection technology; Case report
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.
Publish Date	2024-06-18 09:29
Citation	<p>He M, Lv YC, Wei YH, Liu LQ, Guo L, Li C. Complex heterozygous mutations in hereditary spherocytosis: A case report. <i>World J Clin Cases</i> 2024; 12(18): 3582-3588</p>
URL	https://www.wjgnet.com/2307-8960/full/v12/i18/3582.htm
DOI	https://dx.doi.org/10.12998/wjcc.v12.i18.3582

Full Article (PDF)	WJCC-12-3582-with-cover.pdf
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Manuscript File	93282_Auto_Edited-YJP.docx
Answering Reviewers	93282-answering-reviewers.pdf
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