rs1799945 ยท Iron Metabolism
HFE H63D is associated with hereditary hemochromatosis โ iron overload that can damage the liver, heart, and pancreas if untreated.
HFE regulates iron absorption in the gut. The H63D variant (His63Asp) is a milder mutation than C282Y but still increases iron absorption. Compound heterozygosity (H63D + C282Y) carries significant risk. Hemochromatosis is one of the most treatable genetic conditions โ regular blood donation or phlebotomy prevents all complications if caught early.
| Genotype | Status | What It Means |
|---|---|---|
| CC | Normal | No increased iron absorption from this variant. |
| CG | Carrier | Mildly increased iron absorption. Low risk alone; significant if also carrying C282Y. |
| GG | Homozygous | Moderately increased iron absorption. Monitor ferritin and transferrin saturation annually. |
All carriers should get serum ferritin and transferrin saturation tested. If elevated, regular blood donation is the simplest treatment. Avoid iron supplements and excessive vitamin C with iron-rich meals. The full report checks both HFE variants (H63D and C282Y) together.
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