Article
Prevalence and clinical significance of HFE gene mutations in patients with iron overload.
The American journal of gastroenterology - 1 Oct 2000
Brandhagen D J, Fairbanks V F, Baldus W P, Smith C I, Kruckeberg K E, Schaid D J, Thibodeau S N
Abstract excerpt
OBJECTIVE: The HFE gene contains two mutant alleles; C282Y and H63D. The C282Y mutation occurs in 55-100% of patients with hereditary hemochromatosis. The aim of our study was to re-examine the frequencies of the C282Y and H63D mutations in patients with mild and marked iron overload and in normal subjects. METHODS: A total of 82 patients with iron overload were included in this study and had hepatic iron index...
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