Galhenage Sumedha P, Viiala Charlie H, Olynyk John K
School of Medicine and Pharmacology, University of Western Australia, Fremantle Hospital Campus, PO Box 480, Fremantle, Western Australia 6959.
Curr Gastroenterol Rep. 2004 Feb;6(1):44-51. doi: 10.1007/s11894-004-0025-2.
Hereditary hemochromatosis is a common autosomal- recessive disorder of iron overload usually occurring in individuals who are homozygous for a C282Y mutation in the hemochromatosis (HFE) gene. Current screening methods can detect affected individuals early in disease pathogenesis, enabling early institution of effective treatment that can restore normal life expectancy. Phenotypic screening of adults using transferrin saturation and serum ferritin levels identifies the majority of individuals who develop iron overload. HFE genotyping, when combined with serum biochemical measurements, has reduced reliance on liver biopsy as a diagnostic tool and is the preferred initial screening modality for families with an affected individual. Genetic testing has altered previously held views regarding the high level of penetrance of the disease. Although the majority of C282Y homozygotes develop increased body iron stores, end-organ damage occurs much less frequently than previously thought. Screening is recommended in high-risk groups and in those with a high index of clinical suspicion. Opportunistic screening during routine health assessments may also be recommended. However, large-scale screening of the average-risk population is not recommended on the basis of current evidence.
遗传性血色素沉着症是一种常见的常染色体隐性铁过载疾病，通常发生在血色素沉着症（HFE）基因C282Y突变纯合子个体中。目前的筛查方法能够在疾病发病机制的早期检测出受影响个体，从而能够尽早开展有效治疗，恢复正常预期寿命。使用转铁蛋白饱和度和血清铁蛋白水平对成年人进行表型筛查，可识别出大多数发生铁过载的个体。HFE基因分型与血清生化检测相结合，减少了对肝活检作为诊断工具的依赖，是对有患病个体的家庭首选的初始筛查方式。基因检测改变了之前关于该疾病高外显率的观点。虽然大多数C282Y纯合子个体的体内铁储存增加，但终末器官损害的发生频率比之前认为的要低得多。建议在高危人群和临床怀疑指数高的人群中进行筛查。也可能建议在常规健康评估期间进行机会性筛查。然而，根据目前的证据，不建议对一般风险人群进行大规模筛查。
