The present study aimed at assessing the frequency ofHFE mutations (C282Y, H63D and S65C) in western Romanian patients with liver disease of diverse aetiologies suspected of iron overload. A total of 21 patients, all Romanian residents hospitalized with clinical suspicion of iron overload and liver disease, were assayed for C282Y, H63D and S65C mutations, serum ferritin and viral hepatitis markers. Overall, 9 out of the 21 patients (42.86%) were found to harbour mutations in theHFE gene: 4 homozygotes C282Y (19.0%), 1 compound heterozygote C282Y/H63D (4.8%), 1 single heterozygote C282Y (4.8%), 2 single heterozygotes H63D (9.5%), 1 single heterozygote S65C (4.8%), and 12 wild-type cases (57.1%). Among the subgroup of 10 patients with the most prominent signs of iron overload (hyperferritinaemia and/or hepatocyte iron score ≥ 1), without hepatocellular carcinoma, theHFE genotypes were conclusive in 5 cases (50%). They had significantly increased ferritin levels compared to wild-type cases (P = 0.029). The inclusion of iron studies during routine clinical visits, coupled with the availability ofHFE genotyping for family and population studies, should facilitate the early detection of hereditary haemochromatosis in Romania.

中文翻译：

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突变的 HFE 基因型导致罗马尼亚西部肝病患者的铁过载显着。

本研究旨在评估罗马尼亚西部患有怀疑铁过载的多种病因的肝病患者中HFE突变（C282Y、H63D 和 S65C）的频率。共有 21 名患者，所有罗马尼亚居民均因临床怀疑铁过载和肝病住院，接受了 C282Y、H63D 和 S65C 突变、血清铁蛋白和病毒性肝炎标志物的检测。总体而言，21 名患者中有 9 名 (42.86%) 被发现在HFE 中存在突变基因：4个纯合子C282Y（19.0%），1个复合杂合子C282Y/H63D（4.8%），1个单杂合子C282Y（4.8%），2个单杂合子H63D（9.5%），1个单杂合子S65C，（4.8%）野生型病例（57.1%）。在 10 名具有最突出铁过载迹象（高铁蛋白血症和/或肝细胞铁评分 ≥ 1）的患者亚组中，没有肝细胞癌，其中5 例（50%）的HFE基因型是决定性的。与野生型病例相比，它们的铁蛋白水平显着增加（P = 0.029）。在常规临床访视中纳入铁研究，再加上可用于家庭和人群研究的HFE基因分型，应有助于在罗马尼亚早期发现遗传性血色病。