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Epidemiology and diagnostic testing for hemochromatosis and iron overload
Author(s) -
Adams P. C.
Publication year - 2015
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.12347
Subject(s) - hemochromatosis , transferrin saturation , hereditary hemochromatosis , medicine , cirrhosis , genetic testing , ferritin , hepatocellular carcinoma , epidemiology , serum ferritin , gastroenterology , pathology
Summary 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 101 168 participants.