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

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 coex...

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Detalles Bibliográficos
Autores principales: Yang, Jinjun, Lun, Yan, Shuai, Xiao, Liu, Ting, Wu, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306545/
https://www.ncbi.nlm.nih.gov/pubmed/28943547
http://dx.doi.org/10.2169/internalmedicine.8628-16
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author Yang, Jinjun
Lun, Yan
Shuai, Xiao
Liu, Ting
Wu, Yu
author_facet Yang, Jinjun
Lun, Yan
Shuai, Xiao
Liu, Ting
Wu, Yu
author_sort Yang, Jinjun
collection PubMed
description 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.
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spelling pubmed-63065452018-12-27 Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations Yang, Jinjun Lun, Yan Shuai, Xiao Liu, Ting Wu, Yu Intern Med Case Report 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. The Japanese Society of Internal Medicine 2017-09-25 2018-12-01 /pmc/articles/PMC6306545/ /pubmed/28943547 http://dx.doi.org/10.2169/internalmedicine.8628-16 Text en Copyright © 2018 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Yang, Jinjun
Lun, Yan
Shuai, Xiao
Liu, Ting
Wu, Yu
Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations
title Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations
title_full Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations
title_fullStr Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations
title_full_unstemmed Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations
title_short Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations
title_sort late-onset hemochromatosis: co-inheritance of β-thalassemia and hereditary hemochromatosis in a chinese family: a case report and epidemiological analysis of diverse populations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306545/
https://www.ncbi.nlm.nih.gov/pubmed/28943547
http://dx.doi.org/10.2169/internalmedicine.8628-16
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