Genetic testing for the risk of HHC is recommended in individuals with suspected iron overload (ie elevated serum ferritin concentration >200 µg/L [(females)] or >300 µg/L [(males)], and a transferrin saturation >45% will identify almost all patients with HFE-haemochromatosis).2,6–8
Cascade screening is warranted for all first-degree relatives of patients with HHC who are C282Y homozygous or C282Y/H63D compound heterozygous.
A Medicare Benefits Schedule (MBS) rebate for the HFE gene test applies where the patient has an elevated transferrin saturation or elevated serum ferritin on repeat testing or a first-degree relative with haemochromatosis or is homozygous for the C282Y gene variant or a compound heterozygote.9