Patients with presumed iron overload
Genetic counselling
Case scenario
The treatment of patients with haemochromatosis and iron overload who are homozygous for the C282Y mutation is straightforward. Treatment includes venesections until patients’ iron levels are reduced to within the normal range.
What is your approach to patients with presumed iron overload (e.g. ferritin levels >600 microgram/L and transferrin saturation >60%) who are heterozygous for the C282Y or H63D mutation? Is the treatment endpoint for patients who are heterozygous for the C282Y or H63D mutation the same as for those who are homozygous for the C282Y mutation, or are these patients classed into different treatment subgroups?
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