Candidate genes for modification of the hemochromatosis phenotype
| Candidate gene . | Deficiency model . | References . | Intestinal iron overload . | Tissue iron overload . | Microcytic anemia . | Studies of the effect of polymorphisms . |
|---|---|---|---|---|---|---|
| HFE | M, H | 51-53 | No | Yes | No | 54 |
| β2-Microglobulin | M | 55 | No | Yes | 54 | |
| Transferrin receptor 1 | M | 56 | No | Yes | 57 | |
| Transferrin receptor 2 | H | 58 | No | Yes | 57,59-61 | |
| Transferrin | M, H | 62,63 | No | Yes | Yes | 64 |
| Heme oxygenase | M | 65 | No | Yes | Yes | |
| Ceruloplasmin | H | 66 | No | Yes | 67 | |
| DMT1 (nramp2) | M | 68,69 | No | No | Yes | 70 |
| Hephaestin(sla) | M | 52,71 | Yes | No | Yes | |
| Ferritin light chain | 67 | |||||
| Ferritin heavy chain | H | Yes | 67,72 | |||
| IRP1 | 73 | 67 | ||||
| IRP2 | M | 73,74 | Yes | 67 | ||
| DHPR ferric reductase | 75 | |||||
| IREG1(ferroportin) | 76 | 67 | ||||
| Mobilferrin (calreticulin) | 77 | 78 |
| Candidate gene . | Deficiency model . | References . | Intestinal iron overload . | Tissue iron overload . | Microcytic anemia . | Studies of the effect of polymorphisms . |
|---|---|---|---|---|---|---|
| HFE | M, H | 51-53 | No | Yes | No | 54 |
| β2-Microglobulin | M | 55 | No | Yes | 54 | |
| Transferrin receptor 1 | M | 56 | No | Yes | 57 | |
| Transferrin receptor 2 | H | 58 | No | Yes | 57,59-61 | |
| Transferrin | M, H | 62,63 | No | Yes | Yes | 64 |
| Heme oxygenase | M | 65 | No | Yes | Yes | |
| Ceruloplasmin | H | 66 | No | Yes | 67 | |
| DMT1 (nramp2) | M | 68,69 | No | No | Yes | 70 |
| Hephaestin(sla) | M | 52,71 | Yes | No | Yes | |
| Ferritin light chain | 67 | |||||
| Ferritin heavy chain | H | Yes | 67,72 | |||
| IRP1 | 73 | 67 | ||||
| IRP2 | M | 73,74 | Yes | 67 | ||
| DHPR ferric reductase | 75 | |||||
| IREG1(ferroportin) | 76 | 67 | ||||
| Mobilferrin (calreticulin) | 77 | 78 |
M indicates mouse knockout or deficiency mutation; H, human deficiency.