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12/4/2020 9:56:59 AM | Browse: 1017 | Download: 2619
Publication Name World Journal of Clinical Cases
Manuscript ID 55972
Country China
Received
2020-04-15 14:22
Peer-Review Started
2020-04-11 17:56
First Decision by Editorial Office Director
2020-05-26 22:40
Return for Revision
2020-05-29 12:16
Revised
2020-07-23 12:26
Publication Fee Transferred
Second Decision by Editor
2020-10-10 07:48
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2020-10-13 05:00
Articles in Press
2020-10-13 05:00
Edit the Manuscript by Language Editor
2020-11-04 08:39
Typeset the Manuscript
2020-11-30 04:56
Publish the Manuscript Online
2020-12-04 09:56
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: http://creativecommons.org/Licenses/by-nc/4.0/
Copyright The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
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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 Gastroenterology & Hepatology
Manuscript Type Observational Study
Article Title Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis
Manuscript Source Unsolicited Manuscript
All Author List Dan-Dan Ruan, Yu-Mian Gan, Tao Lu, Xiao Yang, Yao-Bin Zhu, Qing-Hua Yu, Li-Sheng Liao, Ning Lin, Xin Qian, Jie-Wei Luo and Fa-Qiang Tang
ORCID
Author(s) ORCID Number
Dan-Dan Ruan http://orcid.org/0000-0001-9611-2979
Yu-Mian Gan http://orcid.org/0000-0003-3676-1242
Tao Lu http://orcid.org/0000-0002-6807-9152
Xiao Yang http://orcid.org/0000-0003-2091-7126
Yao-Bin Zhu http://orcid.org/0000-0003-2186-2286
Qing-Hua Yu http://orcid.org/0000-0002-3465-6417
Li-Sheng Liao http://orcid.org/0000-0001-7364-4366
Ning Lin http://orcid.org/0000-0003-4911-7309
Xin Qian http://orcid.org/0000-0001-7239-7295
Jie-Wei Luo http://orcid.org/0000-0003-4271-4848
Fa-Qiang Tang http://orcid.org/0000-0002-0625-8470
Funding Agency and Grant Number
Funding Agency Grant Number
National Natural Science Foundation of China 81874379
Fujian Province Medical Innovation Foundation 2019-CXB-3
Fujian Province Medical Innovation Foundation 2019-CXB-4
Corresponding Author Fa-Qiang Tang, MD, Chief Physician, Doctor, Doctor, Shengli Clinical Medical College, Fujian Medical University, No. 134 Dongjie, Fuzhou 350001, Fujian Province, China. faqiangtang@fjmu.edu.cn
Key Words Hemochromatosis; Hemachromatosis osteoarthropathy; Next-generation sequencing; Thalassemia; Gap-PCR; PIEZO1 gene
Core Tip Hemochromatosis (HC) has two major classes: Primary and secondary. Iron overload in the patient’s body causes iron deposition in various tissues and organs, which leads to functional or structural changes. It is not easy to find the cause because the phenotypes of various iron overload diseases overlaps, Therefore, it is particularly important to use genetic test to find the genetic backgrounds of patients. It took us 10 years to diagnose a HC patient by different genetic testing methods, a 61-year-old male was presented with pain and swelling in left knee joint and below, jaundice, hemolytic anemia, microcytic hypochromic anemia, iron overload, hypolipidemia and normal blood glucose. The patient was primarily diagnosed as hematological disease or bone metastases. The selection of genetic detection methods still needs to be based on an in-depth study of the clinical manifestations of the disease.
Publish Date 2020-12-04 09:56
Citation Ruan DD, Gan YM, Lu T, Yang X, Zhu YB, Yu QH, Liao LS, Lin N, Qian X, Luo JW, Tang FQ. Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis. World J Clin Cases 2020; 8(23): 5962-5975
URL https://www.wjgnet.com/2307-8960/full/v8/i23/5962.htm
DOI https://dx.doi.org/10.12998/wjcc.v8.i23.5962
Full Article (PDF) WJCC-8-5962.pdf
Full Article (Word) WJCC-8-5962.docx