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genetic diagnosis history and osteoarticular phenotype of a nontransfusion secondary hemochromatosis

World Journal of Clinical Cases 2020年第23期8卷 5962-5975页

作者： 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 Shengli Clinical Medical College Fujian Medical UniversityFuzhou 350001Fujian ProvinceChina Department of Management Fujian Health CollegeFuzhou 350101Fujian ProvinceChina Department of Traditional Chinese Medicine The First Affiliated HospitalFujian Medical UniversityFuzhou 350005Fujian ProvinceChina Department of Orthopedics Fujian Provincial HospitalFuzhou 350001Fujian ProvinceChina

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.

关键词： Hemochromatosis Hemochromatosis osteoarthropathy Next-generation sequencing Thalassemia Gap-PCR piezo1 gene

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