Epidemiology and diagnostic testing for hemochromatosis and iron overload

作者: P. C. Adams

DOI: 10.1111/IJLH.12347

关键词:

摘要: Hemochromatosis is the most common genetic disease in northern European populations. Body iron stores progressively increase patients, which can lead to cirrhosis of liver, hepatocellular carcinoma, heart failure, arthritis, and pigmentation. Simple blood tests such as serum ferritin transferrin saturation are useful suggest diagnosis be confirmed cases with a simple test for C282Y mutation HFE gene. However, these often misinterpreted there rare patients overload without mutations. A diagnostic approach presented based on large referral practice population-based study (HEIRS) screened 101,168 participants.

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