Genetic diagnosis history and osteoarticular phenotype of a nontransfusion secondary hemochromatosis
作者机构：Shengli Clinical Medical CollegeFujian Medical UniversityFuzhou 350001Fujian ProvinceChina Department of ManagementFujian Health CollegeFuzhou 350101Fujian ProvinceChina Department of Traditional Chinese MedicineThe First Affiliated HospitalFujian Medical UniversityFuzhou 350005Fujian ProvinceChina Department of OrthopedicsFujian Provincial HospitalFuzhou 350001Fujian ProvinceChina
出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期：2020年第8卷第23期
页 面：5962-5975页
核心收录：
学科分类：1002[医学-临床医学] 100206[医学-皮肤病与性病学] 10[医学]
基 金：Supported by National Natural Science Foundation of China,No.81874379 Fujian Province Medical Innovation Foundation,No.2019-CXB-3 and 2019-CXB-4
主 题：Hemochromatosis Hemochromatosis osteoarthropathy Next-generation sequencing Thalassemia Gap-PCR PIEZO1 gene
摘 要：BACKGROUND It is not easy to identify the cause of various iron overload diseases because the phenotypes ***,it is important to perform genetic testing to determine the genetic background of *** To investigate the genetic background of a patient with hemochromatosis complicated by psoriasis on both lower *** Ten years ago,a 61-year-old male presented with iron overload,jaundice,hemolytic anemia and microcytic hypochromic *** tomography of the left knee joint showed enlargement of the tibial medullary cavity and thinned bone *** resonance imaging showed hepatic hemochromatosis,extensive abnormal signals from bone marrow cavities and nodular lesions in the lateral medullary cavity of the upper left lateral *** photon emission computed tomography showed radial dots of abnormal concentration in the upper end of the left tibia and radial symmetry of abnormal concentrations in joints of the *** patient showed several hot spot mutations of the HFE and G6PD genes detected by next-generation sequencing,but no responsible gene mutation was *** thalassemia gene was detected by *** The patient was found to carry the-α4.2 and--SEA deletion mutations of the globin *** two mutations are common causes of Southeast Asianα-thalassemia,but rarely cause severe widespread non-transfusion secondary hemochromatosis *** simultaneous presence of an auxiliary superposition effect of a rare missense mutation of the PIEZO1 gene(NM_001142864,c.C4748T,p.A1583V)was ***,several rare mutations of the IFIH1,KRT8,POFUT1,FLG,KRT2,and TGM5 genes may be involved in the pathogenesis of *** The selection of genetic detection methods for hemochromatosis still needs to be based on an in-depth study of the clinical manifestations of the disease.
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