| C282Y (p.Cys282Tyr) | The most frequent mutation, resulting in a cysteine-to-tyrosine substitution at position 282. Homozygotes for C282Y have significantly elevated transferrin saturation and ferritin levels. |
| H63D (p.His63Asp) | A milder variant that may contribute to iron overload when compound heterozygous with C282Y or in combination with other genetic or environmental factors. |
| Liver | Hepatocytes and Kupffer cells |
| Heart | Cardiac myocytes |
| Pancreas | Beta cells of the Islets of Langerhans |
| Pituitary gland | Leading to endocrine dysfunction |
| Brain | Basal ganglia, substantia nigra, and cortical regions |
| Resting tremor | Typically asymmetric |
| Rigidity | Cogwheel-type rigidity |
| Bradykinesia | Slowed movements |
| Postural instability | Balance difficulties |
| Databases | OMIMOrphanetClinicalTrialsPubMed |