Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 6, 2024; 12(19): 3961-3970
Published online Jul 6, 2024. doi: 10.12998/wjcc.v12.i19.3961
Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient: A case report
Ling-Ding Xie, Xiao-Mu Kong, Jing-Xia Shen, Tai-Ling Wang, Jing Ma, Yun-Fen Zhang, Xiao-Ping Chen
Ling-Ding Xie, Xiao-Mu Kong, Xiao-Ping Chen, Department of Endocrinology, China-Japan Friendship Hospital, Beijing 100029, China
Jing-Xia Shen, Department of Tumor Radiotherapy and Chemotherapy, Qian’an People’s Hospital, Qian’an 064400, Hebei Province, China
Tai-Ling Wang, Department of Pathology, China-Japan Friendship Hospital, Beijing 100029, China
Jing Ma, Department of Endocrinology, Aksu First People's Hospital, Aksu Region 843000, Xinjiang Uygur Autonomous Region, China
Yun-Fen Zhang, Department of Metabolic Diseases, Qian’an Traditional Chinese Medical Hospital, Qian’an 064400, Hebei Province, China
Author contributions: Chen XP, Xie LD, Kong XM, and Shen JX designed and performed the study, investigated the pedigree; Chen XP, Xie LD, Shen JX, Zhang YF, and Ma J took care of the patient and collected the clinical data; Kong XM contributed to the gene analysis; Chen XP, Xie LD, and Kong XM interpreted the genetic data of the pedigree, drafted the first version of the manuscript; Wang TL examined the pathological sections of the liver; Chen XP completed the final version of the manuscript; supervised and managed the data. All the authors have read and approved the final manuscript and approved the submission of this work.
Supported by National High Level Hospital Clinical Research Funding, No. 2022-NHLHCRF-LX-02-0101.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors who have taken part in this study declare that they do not have anything to disclose regarding funding or conflicts of interest with respect to this manuscript.
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: Xiao-Ping Chen, MD, PhD, Associate Professor, Chief Physician, Department of Endocrinology, China-Japan Friendship Hospital, No. 2 Yinghua East Street, Chaoyang District, Beijing 100029, China. chenxiaoping@zryhyy.com.cn
Received: February 27, 2024
Revised: May 8, 2024
Accepted: May 20, 2024
Published online: July 6, 2024
Processing time: 122 Days and 22.2 Hours
Core Tip

Core Tip: Juvenile hemochromatosis (JH) is an early-onset, rare autosomal recessive disorder of iron overload that causes damage to multiple organs. Pathogenic mutations in the hemojuvelin (HJV) gene are the major cause of JH. We presented a 34-year-old male Chinese patient with a novel HJV mutation c.863G>A (p.R288Q) and two known mutations in cis, c.18G>C (p.Q6H) and c.962_963delGCinsAA (p.C321*). The proband presented with diabetes, hypogonadotropic hypogonadism, hypophysis hypothyroidism, hyperpigmentation, liver fibrosis, a markedly elevated serum ferritin level of 4329 μg/L and a transferrin saturation rate of 95.4%. His condition improved after 72 wk of intensive phlebotomy therapy.