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A candidate gene
for HH type I was identified in 1996 on chromosome 6, at position 6p21.3. It
is called HFE and encodes the HFE protein, a transmembrane
glycoprotein that is implicated in modulation of iron uptake .
Currently, eighteen different mutations have been identified in this gene
worldwide and, one of them, termed C282Y, is present at homozygous state in
80 to 95 percent of HH patients. The two other most common susceptibility
factors of the HFE gene are associated with milder forms of HH (H63D
and S65C).
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