A/ATwo copies of the C282Y variant — the genotype most strongly associated with hereditary hemochromatosis, a condition where the body absorbs too much iron from food. Not everyone with this genotype develops iron overload, but published research associates it with substantially elevated risk compared to the general population.
G/AOne copy of the C282Y variant. Published research associates this genotype with carrier status — usually not enough to cause iron overload on its own, but relevant for family planning and if combined with other HFE variants.
G/GNo copies of the C282Y variant. Published research does not associate this genotype with elevated hereditary hemochromatosis risk from this variant.
This is a medically actionable finding. Talk to a doctor about a ferritin/iron panel blood test — hereditary hemochromatosis is manageable when caught early, typically with routine blood donation or therapeutic phlebotomy.
Source: Feder et al. 1996, Nature Genetics — a novel MHC class I-like gene (HFE) mutated in patients with hereditary haemochromatosis.