HFE: C282Y (Hemochromatosis)

rs1800562 · Iron Metabolism

HFE C282Y is the primary mutation for hereditary hemochromatosis. Homozygous carriers have a high risk of iron overload if not monitored.

What This SNP Does

C282Y (Cys282Tyr) is the major hemochromatosis mutation. ~1 in 200 people of Northern European descent are homozygous (C282Y/C282Y), making this one of the most common genetic diseases. Excess iron deposits in the liver, heart, pancreas, and joints, causing cirrhosis, cardiomyopathy, diabetes, and arthritis. Early detection and treatment (phlebotomy) completely prevents complications.

Genotype Meanings

Genotype	Status	What It Means
GG	Normal	No C282Y mutation. Standard iron metabolism.
GA	Carrier	One copy of C282Y. Low risk alone. Important if also carrying H63D (compound heterozygote).
AA	Homozygous	Two copies of C282Y. High risk of iron overload. Regular monitoring required. Treatment is simple — blood donation.

What You Can Do

Homozygous individuals MUST get ferritin and transferrin saturation tested. Therapeutic phlebotomy (blood removal) is curative. Carriers should monitor annually. This is one of the most treatable genetic conditions when caught early.

This information is for educational purposes only and is not medical advice. Always consult a qualified healthcare provider before making health decisions based on genetic data. Genome Decoder does not diagnose, treat, or prevent any disease.