Hemochromatosis International: therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr homozygous genotype
10.3760/cma.j.issn.1007-3418.2019.12.009
- VernacularTitle: 血色病国际有关HFE p.Cys282Tyr纯合基因型血色病的治疗推荐意见
- Author:
Wei ZHANG
1
;
Jian HUANG
2
;
Xiaojuan OU
1
;
Hong YOU
1
;
Jidong JIA
1
Author Information
1. Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China; Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing 100050, China; National Clinical Research Center for Digestive Diseases, Beijing 100050, China
2. Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing 100050, China; National Clinical Research Center for Digestive Diseases, Beijing 100050, China; Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China
- Publication Type:Guideline
- Keywords:
Hemochromatosis, hereditary;
Iron overload;
Treatment;
Recommendations
- From:
Chinese Journal of Hepatology
2019;27(12):980-981
- CountryChina
- Language:Chinese
-
Abstract:
Hereditary hemochromatosis is a kind of hereditary metabolic liver disorders. It is caused by mutations in genes related to hemochromatosis, which leads to over deposition of iron in the liver, pancreas, skin, hypophysis, gonad and other organs and tissues of the whole body and is manifested as cirrhosis, diabetes, skin pigmentation, and low libido. Physicians of our country have inadequate understanding and familiarity with this disorder. Both the European Association for the Study of the Liver and the American Association for the Study of Liver Diseases have issued guidelines for the diagnosis and treatment of hemochromatosis, but these two guidelines are complicated and difficult for Chinese clinical physician to comprehend. In 2018, Hepatology International published therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr homozygous genotype developed by Hemochromatosis International, these recommendations were objective, simple, and practical. We believe the above-mentioned guideline is understandable and helpful for clinicians and patients without medical education background. Therefore, herein the recommendations are translated into Chinese language, with a view to being able to be clinical work guide for the majority of Chinese hepatologists.
