HFE-associated hereditary haemochromatosis
EJ Eijkelkamp | TR Yapp | LW Powell
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.