Q J Med 2001; 94: 453-456
© 2001 Association of Physicians
Editorial |
Liver disorder and the HFE locus
Centre for Liver Research, Medical School, University of Newcastle upon Tyne
Hereditary haemochromatosis (HH) is the most common inherited disease in Northern Europeans, with a prevalence of around 1 in 300.1 When Feder et al. identified a mutation in a novel MHC-class-I-like gene, HFE, that was present in over 80% of these patients, it was evident that there was potential to improve not only patient diagnosis, but also the understanding of iron absorption and transport, and the mechanisms of iron toxicity.2 HH is characterized by an increase in total body iron stores due to abnormally high intestinal absorption. The classical features of cirrhosis, diabetes, cardiac failure, arthritis and bronze skin pigmentation have been recognized since 1889, and, prior to the development of biochemical markers of iron overload, diagnosis was entirely clinical. The subsequent addition of testing of iron indices helped the diagnosis in suspected cases, with increased transferrin saturation being the most sensitive marker,3 and serum ferritin providing the
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