【作者】 钱忠明； 康友敏； 常彦忠； 柯亚；

【Author】 QIAN Zhong-ming~ 1,2,3 , KANG You-min~3, CHANG Yan-zhong~1, KE Ya~ 1△ (~1Iron Metabolism Laboratory, Department of Applied Biology and Chemical Technology, Hong Kong Ploytechnic University, Kowloon, Hong Kong, China;?~2?National Key Laboratory of Chinese Medicine and Molecular Pharmacology, Shenzhen 518060, China;?~3?Institue of Neurobiology & Neuropharmacology, Hebei Normal University, Shijiazhuang 050016, China) [A Review] Hereditary haemochromatosis is an iron-overload disease, which mainly induced by the hemochromatosis gene (HFE) mutation. Proximately 10% the whites have mutations in the HFE gene that has been identified in points of C282Y, H63D and S65C. About 85% of HH cases are caused by a mutation of amino acid 282 (C282Y) in the HFE gene. HFE protein is not only involved in regulation of transferrin-bound iron uptake but also a key component in the regulation of intestinal iron absorption. In addition, other gene mutation such as transferrin receptor 2 also can cause HH disease.

【机构】 香港理工大学应用生物及化学科技学系铁代谢实验室； 河北师范大学神经生物和神经药理学研究所； 香港理工大学应用生物及化学科技学系铁代谢实验室 九龙； 中国香港； 深圳中药和分子药理学国家重点实验室； 广东深圳518060； 河北石家庄050016； 九龙；