Waalen Jill, Beutler Ernest
The Scripps Research Institute, La Jolla, CA 92037, USA.
Curr Hematol Rep. 2006 Mar;5(1):34-40.
Hereditary hemochromatosis has been redefined over the past century, from a rare (but often fatal) disorder of iron overload known as "bronzed diabetes" to only biochemical evidence of altered iron metabolism, and recently to mere expression of the C282Y homozygous genotype of the HFE gene. The variable definitions of the disease, as well as the variable degree of penetrance of the C282Y homozygous genotype, have made it difficult to determine optimal screening strategies. Multiple studies performed since discovery of the C282Y mutation have led to the conclusion that overall penetrance of the genotype is low and that screening of asymptomatic general populations for hereditary hemochromatosis is not recommended. Screening for HFE mutations among certain patient groups, including patients with cirrhosis, however, may help target those who would benefit most from iron removal. For most patients, phlebotomy is the preferred treatment option; iron chelation therapies are available for patients unable to tolerate phlebotomy.
在过去的一个世纪里，遗传性血色素沉着症的定义不断演变，从一种罕见（但往往致命）的铁过载疾病，即所谓的“青铜色糖尿病”，到仅有铁代谢改变的生化证据，再到最近仅指HFE基因C282Y纯合基因型的表达。疾病定义的变化以及C282Y纯合基因型不同程度的外显率，使得确定最佳筛查策略变得困难。自发现C282Y突变以来进行的多项研究得出结论，该基因型的总体外显率较低，不建议对无症状普通人群进行遗传性血色素沉着症筛查。然而，在某些患者群体中进行HFE突变筛查，包括肝硬化患者，可能有助于确定那些最能从铁去除治疗中获益的人群。对于大多数患者来说，放血疗法是首选的治疗方案；对于无法耐受放血疗法的患者，可以采用铁螯合疗法。
