| HFE蛋白与遗传性血色病 |
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| 引用本文： | 钱忠明,康友敏,常彦忠,柯亚. HFE蛋白与遗传性血色病[J]. 中国病理生理杂志, 2006, 22(2): 408-411. DOI: 1000-4718 |
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| 作者姓名： | 钱忠明 康友敏 常彦忠 柯亚 |
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| 作者单位： | 1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；2深圳中药和分子药理学国家重点实验室， 广东 深圳 518060；3河北师范大学神经生物和神经药理学研究所， 河北 石家庄 050016 |
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| 基金项目： | 香港政府UGC资助项目(PolyU5270/01M/B-Q445)，香港理工大学研究基金资助项目(G-YX14,A256,G-YD78,A-PD92,G-T616,andG-T856)，深圳中药和分子药理学国家重点实验室研究基金资助项目 |
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| 摘 要： | 遗传性血色病(hereditary haemochromatosis,HH)是一种遗传性铁代谢疾病。发病遍及全球,以白种人发病较多,北欧人群发病率可高达1/200。大约1/10的白色人种是HFE突变基因携带者[1]。国内对HH的发病率尚无确切统计数字,但全国各地均有病例报道[2]。HH主要特征为小肠铁吸收过量增加,逐渐在肝、心、胰和其它内分泌器官的实质细胞沉积,造成器官功能障碍、肝硬化、心力衰竭、糖尿病、垂体功能减退和关节疾病等。此种疾病首次报道於1865年,当时认为HH是糖尿病的一种特殊病例。尔后将这类疾病称为色素性肝硬化(pigment cirrho-sis),或古铜色糖…
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| 关 键 词： | 遗传性血色病 基因 HFE 铁代谢 受体 转铁蛋白 |
| 文章编号： | 1000-4718（2006）02-0408-04 |
| 收稿时间： | 2005-08-25 |
| 修稿时间： | 2005-08-252005-12-02 |
HFE protein and hereditary haemochromatosis |
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| QIAN Zhong-ming,KANG You-min,CHANG Yan-zhong,KE Ya. HFE protein and hereditary haemochromatosis[J]. Chinese Journal of Pathophysiology, 2006, 22(2): 408-411. DOI: 1000-4718 |
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| Authors: | QIAN Zhong-ming KANG You-min CHANG Yan-zhong KE Ya |
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| Affiliation: | 1Iron Metabolism Laboratory, Department of Applied Biology and Chemical Technology, Hong Kong Ploytechnic University, Kowloon, Hong Kong, China;2National Key Laboratory of Chinese Medicine and Molecular Pharmacology, Shenzhen 518060, China；3Institue of Neurobiology & Neuropharmacology, Hebei
Normal University, Shijiazhuang 050016, China |
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| Abstract: | 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. |
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| Keywords: | Hereditary haemochromatosis Genes, HFE Iron metabolism Receptors, transferrin |
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