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1关于基因检测的建议1·1对普通人群不推荐进行HFE基因相关性血色病基因检测,因为本病的外显率低且只有少数C282Y纯合子会发展为铁超负荷(1B)。1·2对于病因不明的肝病患者,如果转铁蛋白饱和度升高,则应考虑测定血色病基因。1·3对于下列患者可考虑检测血色病基因:①迟发性皮肤
1 Recommendations on Genetic Testing 1.1 Genetic testing for HFE-related hemochromatosis is not recommended for the general population because the low penetrance of this disease and only a few C282Y homozygotes develop iron overload (1B). 1.2 For patients with liver disease of unknown etiology, transferrin saturation should be considered when determining hemochromatosis genes. 1.3 For the following patients may consider the detection of hemochromatosis genes: ① delayed skin