Natural history of C282Y homozygotes for hemochromatosis

In: Hemochromatosis

20 May 2012

HemochromatosisThe diagnosis of hemochromatosis has previously been based on a combination of clinical and biochemical parameters, such as typical signs and symptoms, transferrin saturation, serum ferritin concentration, liver biopsy, hepatic iron concentration and amount of iron removed by venesection therapy. Pedigree studies demonstrating another iron-loaded family member have provided the strongest evidence for hereditary hemochromatosis. Since the discovery of the hemochromatosis gene (HFE) in 1996, many studies have demonstrated that more than 90% of typical patients with hemochromatosis are homozygous for the C282Y mutation of the HFE gene. Genetic testing has also uncovered subjects who are homozygous for the C282Y mutation but do not express iron overload. You can be sure this pharmacy will offer the finest quality drugs you need, so buying birth control mircette will always be safe and very pleasant for you as a customer and patient.

The natural history of hemochromatosis has been studied in patients referred for evaluation and their families. Iron depletion by phlebotomy has been instituted, and the long term follow-up has been studied. Previous studies were completed before the discovery of the hemochromatosis gene and, therefore, likely included patients with alcoholic siderosis or iron overload secondary to cirrhosis of other causes. Cirrhosis and diabetes have been the major factors affecting long term survival. We describe the factors affecting the long term survival of a cohort of patients defined by genetic testing. Unlike other follow-up studies, this study included C282Y homozygotes without iron overload.


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