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Gene & pathway reference · FROM DR. PURSER’S TEACHING

HFE

HFE helps regulate iron absorption through signaling that influences hepcidin. The commonly discussed C282Y and H63D variants correspond to rs1800562 and rs1799945. Their implications depend on the combination present and clinical findings.

Based on teaching by Dan Purser, MD. How we prepare these guides

Updated Sep 23, 2026 · Educational reference

THE TEACHING CONNECTION

Iron regulation needs iron measurements

Iron regulation needs iron measurements

HFE helps regulate iron absorption through signaling that influences hepcidin. The commonly discussed C282Y and H63D variants correspond to rs1800562 and rs1799945. Their implications depend on the combination present and clinical findings.

Putting the pieces together

Dr. Purser highlights HFE because iron accumulation can be missed when fatigue is assumed to mean low iron. Ferritin, transferrin saturation, liver context and family history help distinguish iron overload from other causes of an abnormal ferritin. Do not assume every HFE carrier needs to avoid all dietary iron or undergo blood removal.

A question to bring to your visit

What do my transferrin saturation and ferritin show, and is iron overload actually established?

Variant lookup

These names can help you find an entry on your original genetic report. Seeing a name here does not tell you whether it affects your health or whether you need treatment.

Names you may see

C282Y Mutation · H63D Mutation · HFE C282Y Mutation · HFE H63D Mutation · HEF · C282Y · H63D · hemochromatosis · iron overload