Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations
| العنوان: | Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations |
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| المؤلفون: | Yu Wu, Ting Liu, Yan Lun, Jinjun Yang, Xiao Shuai |
| المصدر: | Internal Medicine |
| بيانات النشر: | Japanese Society of Internal Medicine, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Liver Cirrhosis, Male, China, Heterozygote, hereditary hemochromatosis (HH), congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Iron Overload, Cirrhosis, Thalassemia, Case Report, Late onset, Intestinal absorption, 03 medical and health sciences, 0302 clinical medicine, Hepcidins, Hepcidin, hemic and lymphatic diseases, H63D heterozygous mutation, Epidemiology, Internal Medicine, medicine, Humans, Age of Onset, Hemochromatosis Protein, Hemochromatosis, Aged, biology, business.industry, beta-Thalassemia, General Medicine, medicine.disease, Pedigree, 030220 oncology & carcinogenesis, Hereditary hemochromatosis, Mutation, β-thalassemia, Immunology, biology.protein, HFE gene, business, 030215 immunology |
| الوصف: | 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. |
| تدمد: | 1349-7235 0918-2918 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aecbf480b9fc16c0d41b44f74a9799dTest https://doi.org/10.2169/internalmedicine.8628-16Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8aecbf480b9fc16c0d41b44f74a9799d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13497235 09182918 |
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