Yang Jinjun, Lun Yan, Shuai Xiao, Liu Ting, Wu Yu
Department of Hematology and Hematology Research Laboratory, West China Hospital, Sichuan University, China.
Division of Molecular Bioregulation, Cancer Research Institute, Kanazawa University, Japan.
Intern Med. 2018 Dec 1;57(23):3433-3438. doi: 10.2169/internalmedicine.8628-16. Epub 2017 Sep 25.
Hereditary hemochromatosis and β-thalassemia can both result in the inappropriately low production of the hormone hepcidin, which leads to an increase in intestinal absorption and excessive iron deposition in the parenchymal cells. To the best of our knowledge, there have been no reports on the coexistence of the two disorders in China. We herein report a case in a Chinese who presented with late-onset hepatic cirrhosis with hereditary hemochromatosis and β-thalassemia. We analyzed the pedigree of the two disorders and the iron status in his family members. Our case supports that a heterozygous H63D mutation can interact with β-thalassemia, leading to late-onset hemochromatosis.
遗传性血色素沉着症和β地中海贫血都可能导致激素铁调素分泌异常减少，从而导致肠道铁吸收增加以及实质细胞中铁过度沉积。据我们所知，国内尚无这两种疾病共存的报道。我们在此报告1例患有遗传性血色素沉着症和β地中海贫血并出现迟发性肝硬化的中国人病例。我们分析了这两种疾病的家系以及其家庭成员的铁状态。我们的病例支持杂合子H63D突变可与β地中海贫血相互作用，导致迟发性血色素沉着症。
