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6/29/2024 10:30:36 AM | Browse: 133 | Download: 760
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Received |
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2024-02-27 15:16 |
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Peer-Review Started |
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2024-02-27 15:16 |
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First Decision by Editorial Office Director |
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2024-04-24 04:46 |
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Return for Revision |
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2024-04-26 11:14 |
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Revised |
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2024-05-08 14:42 |
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Publication Fee Transferred |
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Second Decision by Editor |
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2024-05-20 02:42 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2024-05-20 08:00 |
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Articles in Press |
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2024-05-20 08:00 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2024-06-14 06:57 |
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Publish the Manuscript Online |
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2024-06-29 10:30 |
| ISSN |
2307-8960 (online) |
| 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/ |
| Copyright |
The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Ling-Ding Xie, Xiao-Mu Kong, Jing-Xia Shen, Tai-Ling Wang, Jing Ma, Yun-Fen Zhang and Xiao-Ping Chen |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National High Level Hospital Clinical Research Funding |
2022-NHLHCRF-LX-02-0101 |
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| 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 |
| Key Words |
Juvenile hemochromatosis; Liver cirrhosis; Diabetes; Iron overload; Phlebotomy; Case report |
| 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. |
| Publish Date |
2024-06-29 10:30 |
| Citation |
Xie LD, Kong XM, Shen JX, Wang TL, Ma J, Zhang YF, Chen XP. Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient: A case report. World J Clin Cases 2024; 12(19): 3961-3970 |
| URL |
https://www.wjgnet.com/2307-8960/full/v12/i19/3961.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v12.i19.3961 |
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