Hereditary hemochromatosis (HFE gene)

The HFE gene sets how much iron your body absorbs. Two variants, a stronger iron-overload one and a milder iron one, combine to set iron-overload risk, so the pair is read together.

Possible results

No hemochromatosis variant. You don't carry either of the two iron variants, so as far as this gene goes your iron regulation is typical.

Carrier of the milder iron variant. You carry one copy of the milder iron variant. On its own it usually does nothing, and it mainly matters alongside the stronger iron variant.

Carrier of the stronger iron variant. You carry one copy of the stronger iron-overload variant. Carriers are usually healthy with only a slightly higher chance of raised iron, and you can pass it on.

Two copies of the milder iron variant. You carry two copies of the milder iron variant. On its own this rarely causes problems, though a few people show slightly higher iron measures.

Compound carrier, moderate risk. You carry one copy of the stronger iron variant and one copy of the milder iron variant together. This carries a moderate, usually mild iron-overload risk, and an iron or ferritin blood test can clarify whether it matters for you.

Higher hemochromatosis risk. You carry two copies of the stronger iron-overload variant, the classic genotype for hereditary hemochromatosis (slow iron overload). Many people stay healthy because this doesn't always cause disease, but a simple ferritin and iron blood test is a worthwhile check.

Evidence & sources

This panel reads C282Y, H63D.

Covers the two iron variants (the stronger and the milder) behind nearly all HFE-related hereditary hemochromatosis, so this pair is close to complete for this gene.

Related

Alpha-1 antitrypsin deficiency · G6PD deficiency (favism) · Gaucher disease type 1 (carrier)