Publication Name	World Journal of Clinical Cases
Manuscript ID	93444
Country	China

Received	2024-02-27 15:16
Peer-Review Started	2024-02-27 15:16
To Make the First Decision
Return for Revision	2024-04-26 11:14
Revised	2024-05-08 14:42
Second Decision	2024-05-20 02:42
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2024-05-20 08:00
Articles in Press	2024-05-20 08:00
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2024-06-14 06:57
Publish the Manuscript Online	2024-06-29 10:30

ISSN	2307-8960 (online)
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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
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	Author(s) ORCID Number Ling-Ding Xie http://orcid.org/0000-0001-5817-436X Xiao-Mu Kong http://orcid.org/0000-0002-5920-4759 Jing-Xia Shen http://orcid.org/0000-0001-9279-0334 Tai-Ling Wang http://orcid.org/0000-0003-2006-0978 Jing Ma http://orcid.org/0000-0002-0632-1978 Yun-Fen Zhang http://orcid.org/0000-0003-3197-525X Xiao-Ping Chen http://orcid.org/0000-0002-5894-2661
Funding Agency and Grant Number	Funding Agency Grant Number National High Level Hospital Clinical Research Funding 2022-NHLHCRF-LX-02-0101
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	<p>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. <i>World J Clin Cases</i> 2024; 12(19): 3961-3970</p>
URL	https://www.wjgnet.com/2307-8960/full/v12/i19/3961.htm
DOI	https://dx.doi.org/10.12998/wjcc.v12.i19.3961

Full Article (PDF)	WJCC-12-3961-with-cover.pdf
CARE Checklist–2016	93444-CARE-Checklist-2016.pdf
Manuscript File	93444_Auto_Edited-JLW.docx
Answering Reviewers	93444-answering-reviewers.pdf
Audio Core Tip	93444-audio.mp3
Conflict-of-Interest Disclosure Form	93444-conflict-of-interest-statement.pdf
Copyright License Agreement	93444-copyright-assignment.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s)	93444-foundation-statement.pdf
Signed Consent for Treatment Form(s) or Document(s)	93444-informed-consent-statement.pdf
Non-Native Speakers of English Editing Certificate	93444-non-native-speakers.pdf
Peer-review Report	93444-peer-reviews.pdf
Scientific Misconduct Check	93444-scientific-misconduct-check.png
Scientific Editor Work List	93444-scientific-editor-work-list.pdf
CrossCheck Report	93444-crosscheck-report.pdf