Genotype, biochemical iron parameters, and clinical data in unrelated patients carrying the S65C variant
| Pat No | Sex | Age (y) | Genotype | Hb (g/l) | Ferritin (μg/l) | TS (%) | ALT (U/l) | HIS | SIS | Fibrosis stage | Phlebotomy (litre) | Diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hb, haemoglobin concentration; TS, transferrin saturation; ALT, alanine aminotransferases; HIS, hepatocyte iron score; SIS, sinusoidal iron score; NASH, non-alcoholic steatohepatitis; ND, not determined. | ||||||||||||
| 1 | M | 24 | C282Y/S65C | 158 | 238 | 77 | 19 | 1 | 0 | 0 | 3.6 | Mild iron overload |
| 2 | F | 60 | C282Y/S65C | 132 | 324 | 48 | 22 | ND | ND | ND | No | Healthy, surveillance |
| 3 | F | 72 | H63D/S65C | 145 | 265 | 55 | 45 | ND | ND | ND | No | Healthy, surveillance |
| 4 | M | 49 | H63D/S65C | 148 | 536 | 31 | 106 | 2 | 0 | 0 | 1.9 | Mild iron overload, AATdef. |
| 5 | M | 68 | H63D/S65C | 154 | 1463 | 53 | 26 | ND | ND | ND | 8.0 | Moderate iron overload, diabetes mellitus |
| 6 | F | 55 | S65C/N | 119 | 251 | 41 | 45 | 1 | 0 | 0 | 2.2 | Mild iron overload |
| 7 | M | 64 | S65C/N | 154 | 566 | 44 | 21 | 2 | 1 | 0 | 5.0 | Mild iron overload |
| 8 | F | 63 | S65C/N | 141 | 205 | 26 | 25 | 1 | 0 | 0 | No | Mild iron overload |
| 9 | F | 72 | S65C/N | 152 | 364 | 41 | 49 | 0 | 0 | 1 | No | Steatosis |
| 10 | M | 58 | S65C/N | 145 | 671 | 28 | 33 | 2 | 1 | 1 | 4.4 | NASH, mild iron overload |
| 11 | F | 71 | S65C/N | 135 | 211 | 56 | 22 | ND | ND | ND | No | Ferritin normalised |
| 12 | M | 64 | S65C/N | 161 | 537 | 26 | 42 | ND | ND | ND | No | Diabetes, hypertension, angina pectoris |
| 13 | M | 69 | S65C/N | 137 | 690 | 48 | 5 | ND | ND | ND | No | Emphysema. Alcohol consumption 40–60 g/d |
| 14 | F | 47 | S65C/N | 135 | 58 | 50 | 24 | ND | ND | ND | No | Healthy |