Letter to the Editor
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 26, 2025; 13(15): 99198
Published online May 26, 2025. doi: 10.12998/wjcc.v13.i15.99198
Reference diagnosis and treatment process of juvenile hemochromatosis patients
Yan-Chun He, Nan-Xue Wang, Tao Zhong
Yan-Chun He, Tao Zhong, College of Medicine, Jining Medical University, Jining 272067, Shandong Province, China
Nan-Xue Wang, Center for Reproductive Medicine, Affiliated Hospital of Jining Medical University, Jining 272029, Shandong Province, China
Co-first authors: Yan-Chun He and Nan-Xue Wang.
Author contributions: He YC and Wang NX wrote the manuscript; Zhong T conceived the project and supervised and coordinated all aspects of the work. He YC and Wang NX contributed equally to this work as co-first authors.
Conflict-of-interest statement: The authors declare no competing interests.
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: Tao Zhong, MD, PhD, Doctor, Professor, Research Scientist, Researcher, College of Medicine, Jining Medical University, No. 133 Hehua Road, Rencheng District, Jining 272067, Shandong Province, China. zhongtao@sdu.edu.cn
Received: July 16, 2024
Revised: December 18, 2024
Accepted: January 11, 2025
Published online: May 26, 2025
Processing time: 188 Days and 21.6 Hours
Abstract

The compelling case report by Xie et al, published in a renowned medical journal, is an excellent example of meticulous clinical evaluation, comprehensive laboratory testing, advanced imaging, and genetic analysis. The authors identified novel compound heterozygous mutations in the hemojuvelin gene of a patient diagnosed with juvenile hemochromatosis. They suggested that long-term, strategic phlebotomy might offer a novel therapeutic strategy for severe juvenile hemochromatosis, challenging the traditional treatment paradigms.

Keywords: Juvenile hemochromatosis; Hemojuvelin gene; Mutations; Clinical evaluation; Laboratory testing; Imaging; Genetic analysis

Core Tip: The current clinical approach for patients diagnosed with juvenile hemochromatosis requires enhancement as it lacks a comprehensive evaluation, testing, advanced imaging, and genetic analysis. The case report by Xie et al is an exemplar of an improved approach that has led to the identification of novel mutations, suggesting new treatment paradigms.