| ALT | Alanine Aminotransferase |
| ESE | Exonic Splicing Enhancer |
| FTL | L-Ferritin gene |
| HAMP | Hepcidin gene |
| HFE | HFE gene |
| HDL | High Density Lipoprotein Cholesterol |
| HGMD | Human Gene Mutation Database |
| HGVS | Human Genome Variation Society |
| HH | Hereditary Hemochromatosis |
| HHCS | Hereditary Hyperferritinemia-Cataract Syndrome |
| HJV | Hemojuvelin gene |
| gnomAD | genome Aggregation Database |
| IRE | Iron Responsive Element |
| IRP | Iron Regulatory Protein |
| LIC | Liver Iron Concentration |
| MLPA | Multiplex Ligation-dependent Probe Amplification |
| MRI | Magnetic Resonance Imaging |
| NGS | Next Generation Sequencing |
| SLC40A1 | Ferroportin gene |
| TFR2 | Transferrin Receptor 2 gene |
| TSAT | Transferrin Saturation |
| WT | Wild-Type |