Genetic diagnosis of hereditary hemochromatosis
10.3969/j.issn.1001-5256.2019.08.004
- VernacularTitle:遗传性血色病的基因诊断
- Author:
Yue HAN
1
;
Xinxin ZHANG
Author Information
1. Research Laboratory of Clinical Virology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai 200025, China
- Publication Type:Research Article
- Keywords:
hemochromatosis;
diagnosis;
gene components
- From:
Journal of Clinical Hepatology
2019;35(8):1673-1679
- CountryChina
- Language:Chinese
-
Abstract:
Iron overload is not rarely seen in clinical practice, and hemochromatosis involving the liver is the most common type of iron overload. There is an extremely low incidence rate of the classic form of HFE hereditary hemochromatosis in the Asian population, which is different from the genetic background of the Caucasian population. European and American studies and international guidelines mainly focus on the HFE type, and there is low consistency between guidelines, with a lack of data from the Asian population. Therefore, with reference to the pathogenic genes of hereditary hemochromatosis and related data in China, this article discusses the genetic diagnosis of hereditary hemochromatosis, in order to provide a reference for the diagnosis and studies of hemochromatosis in the Chinese population.
