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Haemochromatosis Journals | Open Access Journals
Journal of General Practice

Journal of General Practice

ISSN: 2329-9126

Open Access

Haemochromatosis Journals

Hemochromatosis is now known to be an iron storage disease with genetic heterogeneity but with a last common metabolic pathway leading to inappropriate production of the hormone hepcidin. This leads to increased intestinal absorption and the deposition of excessive amounts of iron in the parenchymal cells, which in turn leads to tissue damage and organ failure. A clinical puzzle was the variable clinical expression with some patients with hepatic cirrhosis at a young age and others with almost asymptomatic life. Research is in the process of solving this puzzle by identifying environmental factors - in particular alcohol consumption - and the associated modifier genes that modulate phenotypic expression. A high index of suspicion is required for early diagnosis, but this can lead to presymptomatic treatment and normal life expectancy. Venesection therapy (phlebotomy) remains the mainstay of therapy, but alternative therapies are the subject of current research.

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Citations: 1047

Journal of General Practice received 1047 citations as per Google Scholar report

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