Human Genetics Laboratory, University of Madeira, Campus da Penteada, 9000-390 Funchal, Portugal.
Ann Hematol. 2011 Jan;90(1):29-32. doi: 10.1007/s00277-010-1034-x. Epub 2010 Aug 17.
Hereditary HFE Hemochromatosis is an inherited disorder of iron metabolism that results from mutations in the HFE gene. Almost all patients with hereditary hemochromatosis show a C282Y mutation in homozygosity or in compound heterozygosity with H63D. Also, the mutation S65C has been shown to be associated to a milder iron overload. Since allele and genotype frequencies of these three variants of the HFE gene vary between populations, the determination of their prevalence in Madeira Island will clarify the population susceptibility to hereditary hemochromatosis. One hundred and fifty-four samples from Madeira Island were genotyped for the three most common HFE gene mutations, H63D, C282Y, and S65C, by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Results have shown a prevalence of 20.5%, 0.33%, and 1% for H63D, C282Y, and S65C, respectively. Accordingly to our estimates, both genotypes associated to hereditary hemochromatosis, C282Y homozygotes and C282/H63D compound heterozygotes, could be present in Madeira Island population in 1,648 individuals, which represents 0.65% of the total population.
遗传性血色病是一种铁代谢紊乱的遗传性疾病，由 HFE 基因突变引起。几乎所有遗传性血色病患者均存在 C282Y 纯合突变或与 H63D 复合杂合突变。此外，S65C 突变与较轻的铁过载有关。由于 HFE 基因这三个变体的等位基因和基因型频率在不同人群中存在差异，因此确定 Madeira 岛的这些变体的流行率将阐明该人群对遗传性血色病的易感性。通过聚合酶链反应（PCR）后限制性片段长度多态性分析，对 Madeira 岛的 154 个样本进行了三种最常见的 HFE 基因突变（H63D、C282Y 和 S65C）的基因分型。结果显示，H63D、C282Y 和 S65C 的患病率分别为 20.5%、0.33%和 1%。根据我们的估计，遗传性血色病相关的两种基因型，即 C282Y 纯合子和 C282Y/H63D 复合杂合子，可能存在于 Madeira 岛的 1648 个人中，占总人口的 0.65%。
