<I>HFE</I>-associated hereditary haemochromatosis, Pulsus Group Inc
CANADIAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
The Canadian Association of Gastroenterology (CAG) Canadian Association for the Study of the Liver (CASL)

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Mini-Review February 2000, Volume 14 Issue 2: 121-125
 

HFE-associated hereditary haemochromatosis

EJ Eijkelkamp | TR Yapp | LW Powell

Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10.
Feder et al identified the hereditary hemochromatosis gene (HFE) in 1996 and two candidate mutations; the C282Y mutation has been shown to be responsible for the majority of the hereditary hemochromatosis cases worldwide. The gene discovery has led to rapid advances in the field of iron metabolism. Although the basic defect is still not fully understood, much is known about the sequence of events leading to iron overload.
Hereditary hemochromatosis is a major candidate for population screening and meets the screening criteria of the World Health Organization, and Wilson and Jungner. It is one of the most prevalent genetic diseases in white populations, and, importantly, early diagnosis and simple effective treatment allow normal life expectancy.
The discovery of the HFE gene and the frequency of the single C282Y mutation as a cause of most cases of hereditary hemochromatosis allow the possibility of widespread genetic testing. However, the logistics, and the psychological and social consequence of this, coupled with incomplete expression of the genotype, necessitate further studies before population screening can be justified.

Hereditary hemochromatosis | HFE | Iron metabolism
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