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Home > Staff and Recruitment > Staff Resources > Laboratory Medicine > Clinical Genetics > Haemochromatosis

Haemochromatosis

Professionals – Brief Overview HFE

This is common inherited disorder caused by a genetic predisposition to absorb and store excess dietary iron.  It is more common in those with Northern European ancestry.

Symptoms

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Professionals

Patients

p.C282Y variant is not present

p.C282Y and p.H63D variants are not present

Heterozygous for p.H63D

Heterozygous for p.C282Y

Homozygous for p.H63D

Compound heterozygous for p.C282Y and p.H63D

Homozygous for p.C282Y

Reflex testing

Causes of iron overload