| 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 |
|
| 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 |
