Commentary
See article on page 836Iron overload in Montpelier
| The first 150 words of the full text of this article appear below. |
Since the original discovery of the haemochromatosis gene (HFE)
in 1996,1 there have been two genetic mutations that have dominated clinical studies. The C282Y mutation (845 G
A) has
attracted the most attention as the majority of typical
haemochromatosis patients are homozygotes for this mutation. This has
increasingly led to the use of genetic testing for the diagnosis of
haemochromatosis and in many cases has alleviated the need for liver
biopsy. In comparison with most other genetic diseases, it remains a
marvel that a single mutation explains most clinical cases.
Furthermore, in vitro studies have demonstrated that the C282Y mutation
disrupts the normal presentation of the HFE protein on the cell
surface.2 The H63D mutation (187 GC) was described in
the original description of the HFE gene but
has been relegated to a minor clinical role in comparison with the
C282Y mutation. It is more prevalent than the C282Y mutation with
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Gut 2001 48: 836-842.[Abstract] [Full Text] [PDF]
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