Moirand R, Jouanolle A M, Brissot P, Le Gall J Y, David V, Deugnier Y
Clinique des Maladies du Foie and INSERM Unité 49, Rennes, France.
Gastroenterology. 1999 Feb;116(2):372-7. doi: 10.1016/s0016-5085(99)70134-4.
BACKGROUND & AIMS: Two mutations have been described in the HFE gene: C282Y and H63D. The aim of this study was to determine the phenotype of the different HFE genotypes.
Clinical symptoms and iron data were examined according to HFE genotypes in 531 unrelated patients with unexplained liver iron overload and 579 relatives of hemochromatotic patients.
Non-C282Y +/+ patients did not markedly differ in terms of iron overload or clinical expression according to genotype, except for compound heterozygotes, who had slightly increased transferrin saturation. This contrasted with the strikingly increased expression in C282Y homozygotes. Similar phenotype/genotype correlations were observed in relatives based on serum iron test results. Family transmission of iron overload linked to HFE was exceptional in non-C282Y +/+ siblings and frequent in C282Y homozygotes.
Iron overload in patients with the non-C282Y +/+ genotype is mild to moderate, strikingly lower than in C282Y homozygotes, and is not influenced by HFE genotype, except, to a small extent, for compound heterozygotes. The role of H63D mutation therefore seems to be marginal.
HFE基因中已发现两种突变：C282Y和H63D。本研究旨在确定不同HFE基因型的表型。
对531例不明原因肝铁过载的非亲属患者及579例血色素沉着症患者的亲属，根据HFE基因型检查其临床症状和铁数据。
除复合杂合子转铁蛋白饱和度略有升高外，非C282Y +/+患者在铁过载或临床表型方面，根据基因型并无明显差异。这与C282Y纯合子中显著增加的表现形成对比。基于血清铁检测结果，在亲属中也观察到了类似的表型/基因型相关性。与HFE相关的铁过载在非C282Y +/+同胞中家族性传递情况罕见，而在C282Y纯合子中则较为常见。
非C282Y +/+基因型患者的铁过载为轻度至中度，显著低于C282Y纯合子，且不受HFE基因型影响，但复合杂合子在一定程度上除外。因此，H63D突变的作用似乎很小。
