原发性血色病在中国的研究进展

The Progress of Hereditary Hemochromatosis in China

原发性血色病(HH)为铁代谢异常的疾病,在高加索人群中较常见,而在中国较罕见。很多医师对HH认识不足,常常导致漏诊或者误诊。经文献检索,从1975年至2011年,中国报道的HH仅130余例,而其中极少进行相关基因检测。而有限的对中国人进行HH相关基因检测的结果则表明在高加索人种中导致HH的常见基因突变极少发生于中国人,提示中国人中HH的发生不同于高加索人种。故对中国的HH的临床特点及致病机制进行探讨,以便提高对该病的认识,对今后的诊治有所帮助。

Hereditary hemochromatosis （HH） is an iron-overload-related disease due to genetic defects. It is a common disease in Caucasian but uncommon in Chinese. The insufficient understanding of this disease often leads to missed diagnosis or misdiagnosis. From 1975 to 2011 ,there were only about 130 reported HH cases in China. Only rare cases had genetic analysis results. The genetic analysis of Chinese revealed the common mutations in Caucasian was rare in Chinese,which indicated that the gene mutations in Chinese were different from Caucasian. Therefore, here is to discuss the clinical features and pathogensis of HH in China, so as to improve the related knowledge and offer help for the future diagnosis and treatment.