Article
Diagnosis of hereditary hemochromatosis in the era of genetic testing.
Digestive diseases and sciences - 1 Nov 2012
Trieß Christiane, von Figura Guido, Stuhrmann Manfred, Butzeck Barbara, Krayenbuehl Pierre A, Strnad Pavel, Kulaksiz Hasan
Abstract excerpt
BACKGROUND: Homozygous C282Y mutation in HFE gene is responsible for the majority of hereditary hemochromatosis cases. Since 1996 this mutation can be identified by a simple genetic test. AIMS: To determine the clinical presentations in patients with homozygous HFE C282Y mutation and the impact of genetic testing on the time needed for diagnosis. METHODS: A total of 414 patients diagnosed with C282Y homozygous...
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