Ruan Dan-Dan, Gan Yu-Mian, Lu Tao, Yang Xiao, Zhu Yao-Bin, Yu Qing-Hua, Liao Li-Sheng, Lin Ning, Qian Xin, Luo Jie-Wei, Tang Fa-Qiang
Shengli Clinical Medical College, Fujian Medical University, Fuzhou 350001, Fujian Province, China.
Department of Management, Fujian Health College, Fuzhou 350101, Fujian Province, China.
World J Clin Cases. 2020 Dec 6;8(23):5962-5975. doi: 10.12998/wjcc.v8.i23.5962.
It is not easy to identify the cause of various iron overload diseases because the phenotypes overlap. Therefore, it is important to perform genetic testing to determine the genetic background of patients.
To investigate the genetic background of a patient with hemochromatosis complicated by psoriasis on both lower extremities.
Ten years ago, a 61-year-old male presented with iron overload, jaundice, hemolytic anemia and microcytic hypochromic anemia. Computed tomography of the left knee joint showed enlargement of the tibial medullary cavity and thinned bone cortices. Magnetic 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 tibia. Single 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 extremities. The patient showed several hot spot mutations of the and genes detected by next-generation sequencing, but no responsible gene mutation was found. The thalassemia gene was detected by gap-PCR.
The patient was found to carry the -α and -- deletion mutations of the globin gene. These two mutations are common causes of Southeast Asian α-thalassemia, but rarely cause severe widespread non-transfusion secondary hemochromatosis osteoarthropathy. The simultaneous presence of an auxiliary superposition effect of a rare missense mutation of the gene (NM_001142864, c.C4748T, p.A1583V) was considered. Moreover, several rare mutations of the and genes may be involved in the pathogenesis of psoriasis.
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.
由于各种铁过载疾病的表型相互重叠，因此难以确定其病因。因此，进行基因检测以确定患者的遗传背景非常重要。
调查一名患有血色素沉着症并伴有双下肢银屑病患者的遗传背景。
十年前，一名61岁男性出现铁过载、黄疸、溶血性贫血和小细胞低色素性贫血。左膝关节计算机断层扫描显示胫骨髓腔扩大，骨皮质变薄。磁共振成像显示肝脏血色素沉着症，骨髓腔广泛异常信号，以及左胫骨上段外侧髓腔的结节性病变。单光子发射计算机断层扫描显示左胫骨上端有放射性异常浓聚点，四肢关节放射性浓聚呈对称性。通过下一代测序检测到该患者有几个 和 基因的热点突变，但未发现致病基因突变。采用缺口聚合酶链反应检测地中海贫血基因。
发现该患者携带珠蛋白基因的 -α和 -- 缺失突变。这两种突变是东南亚α地中海贫血的常见病因，但很少导致严重的广泛的非输血继发性血色素沉着症骨关节炎。考虑到同时存在 基因（NM_001142864，c.C4748T，p.A1583V）罕见错义突变的辅助叠加效应。此外， 和 基因的几个罕见突变可能参与了银屑病的发病机制。
血色素沉着症基因检测方法的选择仍需基于对该疾病临床表现的深入研究。
