Moirand R, Deugnier Y, Brissot P
Clinique des Maladies du Foie et Unité d'Alcoologie, Hôpital Pontchaillou, Rennes, France.
Acta Gastroenterol Belg. 1999 Oct-Dec;62(4):403-9.
The discovery of the HFE gene has improved classification and diagnosis of iron overload. Most patients with a phenotypic diagnosis of haemochromatosis are homozygote for the C282Y mutation. Among those with other genotypes, only compound heterozygotes, who present the C282Y mutation on one chromosome and the H63D on the other, may present with haemochromatosis, but with a low penetrance and a mild expression. Other patients usually present with another cause of iron overload, such as insulin resistance, alcoholic liver disease or liver cirrhosis. The practical management of haemochromatosis has been greatly modified, since liver biopsy is no more necessary for diagnosis in C282Y homozygotes, and is only needed for exclusion of cirrhosis. Family screening has also greatly benefited from genotyping.
HFE基因的发现改善了铁过载的分类和诊断。大多数表型诊断为血色素沉着症的患者是C282Y突变的纯合子。在其他基因型的患者中，只有那些一条染色体上存在C282Y突变而另一条染色体上存在H63D突变的复合杂合子可能患有血色素沉着症，但其外显率低且症状表现轻微。其他患者通常有其他导致铁过载的原因，如胰岛素抵抗、酒精性肝病或肝硬化。血色素沉着症的实际管理已发生了很大改变，因为对于C282Y纯合子，肝脏活检不再是诊断所必需的，仅在排除肝硬化时才需要。基因分型也使家族筛查受益匪浅。
