% of Individuals [in populations of European origin] with HH
Genotype
Targeted mutation analysis
HFE mutations: p.C282Y, p.H63D
~60-90
p.C282Y/p.C282Y
3-8
p.C282Y/p.H63D
~1
p.H63D/p.H63D1
Sequence analysis
HFE sequence alterations
Unknown
Unknown (compound heterozygotes for p.C282Y allele and rare HFE mutation)
1There is no evidence that p.H63D/p.H63D (homozygous for H63D in HFE: p.[His63Asp];[His63Asp]) is associated with a hemochromatosis phenotype in the absence of another cause of iron overload
Table 4: Molecular Genetic Testing Used in HFE-HH [7].
