Table 2.
Disorders associated with iron metabolism leading to hepcidin deficiency.
| S. No. | Gene | Inheritance | Protein | Role in Fe Metabolism | Anaemia | Treatment |
|---|---|---|---|---|---|---|
| 1 |
HAMP
(606464) |
Autosomal recessive | Hepcidin | Inhibits iron release by ferroportin |
----- | Not Available |
| 2 |
HFE1
(235200) |
Autosomal recessive | HFE | Regulates synthesis of hepcidin |
----- | Phlebotomy for ferritin >1000 ng/mL |
| 3 |
HJV
(608374) |
Autosomal recessive | Haemojuvelin | Regulates synthesis of hepcidin |
----- | Phlebotomy effective if started early |
| 4 |
TRF2
(602027) |
Autosomal recessive | Transferrin receptor 2 |
Regulates synthesis of hepcidin |
----- | Phlebotomy |
| 5 |
SLC40A1
(604653) |
Autosomal dominant | Ferroportin (loss of function) | Export from cells into circulation |
Mild microcytic | Phlebotomy |
| Ferroportin (gain in hepcidin resistance) |