Potential genetic modifiers of iron loading in hemochromatosis
| Gene . | Study population . | Effect . | Reference . |
|---|---|---|---|
| Hepcidin (HAMP) | C282Y homozygotes | Increased iron loading if heterozygote for HAMP mutation | 33, 34 |
| Hemojuvelin (HJV) | C282Y homozygotes | Increased iron loading if heterozygote for HJV mutation | 35 |
| Bone morphogenetic protein (BMP) | C282Y homozygotes | Common SNP in BMP-2 associated with variability in serum ferritin | 36 |
| Ceruloplasmin (Cp) | Mouse model | Double knockout associated with heavier hepatic iron loading | 37 |
| Transferrin receptor 2 | Mouse model | Deficiency associated with heavier iron loading in HFE knockout mice | 38 |
| β2-microglobulin | Mouse model | Deficiency associated with heavier iron loading in HFE knockout mice | 38 |
| Gene . | Study population . | Effect . | Reference . |
|---|---|---|---|
| Hepcidin (HAMP) | C282Y homozygotes | Increased iron loading if heterozygote for HAMP mutation | 33, 34 |
| Hemojuvelin (HJV) | C282Y homozygotes | Increased iron loading if heterozygote for HJV mutation | 35 |
| Bone morphogenetic protein (BMP) | C282Y homozygotes | Common SNP in BMP-2 associated with variability in serum ferritin | 36 |
| Ceruloplasmin (Cp) | Mouse model | Double knockout associated with heavier hepatic iron loading | 37 |
| Transferrin receptor 2 | Mouse model | Deficiency associated with heavier iron loading in HFE knockout mice | 38 |
| β2-microglobulin | Mouse model | Deficiency associated with heavier iron loading in HFE knockout mice | 38 |