Hemochromatosis mutations in the general population: iron overload progression rate
Hemochromatosis mutations in the general population: iron overload progression rate
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DOI：
10.1182/blood-2003-10-3564
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发表时间：
2004-04-15
期刊：
影响因子：
20.3
通讯作者：
Nordestgaard, BG
中科院分区：
文献类型：
--
作者：
Andersen, RV;Tybjaerg-Hansen, A;Nordestgaard, BG
一般人群中遗传性血色素沉着症个体中铁超载的进展率尚不清楚。因此，我们在普通人群中检查了C282Y纯合子的铁超载进展率。使用丹麦普通人群的队列研究哥本哈根城市心脏研究，我们对9174人进行了基因分型。23个C282Y纯合子在性别、年龄和饮酒方面分别与其他5个HFE基因型中的2个受试者相匹配。女性C282Y纯合子和男性C282Y纯合子在25~85岁和35~80岁时，转铁蛋白饱和度分别从50%增加到70%和70%增加到80%。同样，在C282Y纯合子中，女性和男性的铁蛋白水平从100g/L上升到500mug/L，从800mug/L下降到400mug/L。作为25年随访的结果，男性和女性C282Y纯合子的转铁蛋白饱和度和铁蛋白水平略有升高。C282Y纯合子无一例发生临床显性血色素沉着症。总而言之，在普通人群中，C282Y纯合子个体最多表现出转铁蛋白饱和度和铁蛋白水平的适度增加，临床上明显的血色素沉着症很少见。因此，在人群筛查中发现的C282Y纯合子，而不是因为临床上明显的血色病，最多需要每10到20年筛查一次血色病的表现。(C)2004年，由美国血液病学会提供。
The progression rate of iron overload in hereditary hemochromatosis in individuals in the general population is unknown. We therefore examined in the general population iron overload progression rate in C282Y homozygotes. Using a cohort study of the Danish general population, The Copenhagen City Heart Study, we genotyped 9174 individuals. The 23 C282Y homozygotes identified were matched to 2 subjects each of 5 other HFE genotypes with respect to sex, age, and alcohol consumption. As a function of biologic age, transferrin saturation increased from 50% to 70% from 25 to 85 years of age and from 70% to 80% from 35 to 80 years of age in female and male C282Y homozygotes, respectively. Equivalently, ferritin levels increased from 100 to 500 mug/L and decreased from 800 to 400 mug/L in female and male C282Y homozygotes. As a function of 25 years follow-up irrespective of age, transferrin saturation and ferritin levels increased slightly in male and female C282Y homozygotes. None of the C282Y homozygotes developed clinically overt hemochromatosis. In conclusion, individuals in the general population with C282Y homozygosity at most demonstrate modest increases in transferrin saturation and ferritin levels, and clinically overt hemochromatosis is rare. Therefore, C282Y homozygotes identified during population screening, and not because of clinically overt hemochromatosis, at most need to be screened for manifestations of hemochromatosis every 10 to 20 years. (C) 2004 by The American Society of Hematology.