Epidemiology and diagnostic testing for hemochromatosis and iron overload
Epidemiology and diagnostic testing for hemochromatosis and iron overload
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DOI：
10.1111/ijlh.12347
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发表时间：
2015-05-01
影响因子：
3
通讯作者：
Adams, P. C.
中科院分区：
文献类型：
--
作者：
Adams, P. C.
血色病是北方欧洲人群中最常见的遗传性疾病。大多数患者体内铁储存逐渐增加，这可能导致肝硬化、肝细胞癌、心力衰竭、关节炎和色素沉着。简单的血液测试，如血清铁蛋白和转铁蛋白饱和度是有用的，以建议在大多数情况下，可以确认一个简单的遗传测试HFE基因的C282Y突变的诊断。然而，这些血液检查经常被误解，并且有罕见的铁超载患者没有HFE突变。一个诊断方法的基础上提出了一个大型的转诊实践和人口为基础的研究（HEIRS），筛选铁超载101168参与者。
Hemochromatosis is the most common genetic disease in northern European populations. Body iron stores progressively increase in most patients, which can lead to cirrhosis of the liver, hepatocellular carcinoma, heart failure, arthritis, and pigmentation. Simple blood tests such as the serum ferritin and transferrin saturation are useful to suggest the diagnosis which can be confirmed in most cases with a simple genetic test for the C282Y mutation of the HFE gene. However, these blood tests are often misinterpreted and there are rare patients with iron overload without HFE mutations. A diagnostic approach is presented based on a large referral practice and a population-based study (HEIRS) which screened for iron overload in 101168 participants.