Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations

Jinjun Yang, Yan Lun, Xiao Shuai, Ting Liu, Yu Wu
2017 Internal medicine (Tokyo. 1992)  
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
more » ... of the two disorders and the iron status in his family members. Our case supports that a heterozygous H63D mutation can interact with βthalassemia, leading to late-onset hemochromatosis. The proband was a 68-year-old man whose family had lived for generations in Sichuan province of the People's Republic of China. The patient presented with a 2-month history of dizziness and weakness, accompanied by progres-
doi:10.2169/internalmedicine.8628-16 pmid:28943547 fatcat:yxij5jawkjcujlqplnfw6uczse