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©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis
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, Fa-Qiang Tang
Dan-Dan Ruan, Yu-Mian Gan, Tao Lu, Qing-Hua Yu, Li-Sheng Liao, Ning Lin, Xin Qian, Jie-Wei Luo, Fa-Qiang Tang, Shengli Clinical Medical College, Fujian Medical University, Fuzhou 350001, Fujian Province, China
Xiao Yang, Department of Management, Fujian Health College, Fuzhou 350101, Fujian Province, China
Yao-Bin Zhu, Department of Traditional Chinese Medicine, The First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, Fujian Province, China
Fa-Qiang Tang, Department of Orthopedics, Fujian Provincial Hospital, Fuzhou 350001, Fujian Province, China
Author contributions: Ruan DD, Gan YM, Lu T, Yang X and Zhu YB performed the acquisition, analysis, and interpretation of the clinical data; Ruan DD, Zhu YB and Luo JW drafted the manuscript; Liao LS, Lin N and Yu QH provided critical revision of the manuscript; Luo JW and Qian X designed and supervised the study.
Supported by National Natural Science Foundation of China, No. 81874379; Fujian Province Medical Innovation Foundation, No. 2019-CXB-3 and 2019-CXB-4.
Institutional review board statement: This study was approved by the Ethics Committee of Fujian Provincial Hospital (Fuzhou, China).
Informed consent statement: The patient provided written informed consent prior to study enrollment.
Conflict-of-interest statement: The authors do not have any conflict of interest to disclose.
Data sharing statement: No additional data are available.
STROBE statement: The authors have read the STROBE Statement—checklist of items, and the manuscript was prepared and revised according to the STROBE Statement—checklist of items.
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/ Corresponding author: Fa-Qiang Tang, MD, Chief Physician, Doctor, Shengli Clinical Medical College, Fujian Medical University, No. 134 Dongjie, Fuzhou 350001, Fujian Province, China.
faqiangtang@fjmu.edu.cn
Received: April 11, 2020
Peer-review started: April 11, 2020
First decision: May 26, 2020
Revised: July 23, 2020
Accepted: October 12, 2020
Article in press: October 12, 2020
Published online: December 6, 2020
Processing time: 232 Days and 19.6 Hours
ARTICLE HIGHLIGHTS
Research background
Hemochromatosis (HC) is an iron overload disease caused by iron metabolism disorders. It can be divided into two major categories of primary and secondary in terms of etiology. Different genetic heterogeneity and different gene mutations in HC increase the difficulty in identifying genetic causes and diagnosis.
Research motivation
This complex clinical phenotype is characterized by a difficult case of HC including liver and bone tissue damage. It had been misdiagnosed as a metastatic tumor, and the genetic cause was not clear.
Research objectives
To investigate the genetic background of this patient with HC complicated by psoriasis on both lower extremities.
Research methods
The patient underwent detection of several hot spot mutations of the HFE and G6PD genes by next-generation sequencing, but no responsible gene mutation was found. Finally, the thalassemia gene was detected by gap-PCR.
Research results
The patient was found to carry the -α4.2 and --SEA deletion mutants of the globin gene. These two types are common causes of Southeast Asian α-thalassemia, but rarely cause severe widespread non-transfusion secondary hemochromatosis osteoarthropathy. Thus, the simultaneous presence of the auxiliary superposition effect of the rare missense mutation of PIEZO1 gene (NM_001142864, c.C4748T, p.A1583V) was considered.
Research conclusions
The selection of genetic detection methods for HC still needs to be based on an in-depth study of the clinical manifestations of the disease.
Research perspectives
Due to the different mutation forms and the different sensitivity of DNA detection methods, the selection of DNA detection methods is very important. We are looking forward to the emergence of a more comprehensive and low-cost new genome sequencing technology, so that it is easier to identify HC pathogenic genes with high throughput.
