Clinical data of patients with hemochromatosis type 3 with different TFR2 mutations
| . | Sex . | Age at diagnosis . | TS (%) . | SF (μg/L) . | Liver function (HII) . | Additional clinical findings . | IR (g) . | HFEmutations . | TFR2 mutations . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C282Y . | H63D . | Y250X . | E60X . | M172K . | ||||||||
| Family 1 | ||||||||||||
| V-11 | M | 47 | 100 | 3200 | Cirrhosis | Arthritis | * | −/− | −/− | +/+ | −/− | −/− |
| V-12 | M | 36 | 100 | 2600 | Abnormal function findings | * | −/− | −/− | +/+ | −/− | −/− | |
| V-13 | F | 45 | 78 | 329 | Abnormal function findings | * | −/− | −/− | +/+ | −/− | −/− | |
| VII-1 | F | 33 | 100 | 2310 | Normal | Hypogonadism | 9.2 | −/− | −/− | +/+ | −/− | −/− |
| VII-2 | M | 27 | 100 | 2930 | Normal | Hypogonadism | 15 | −/− | −/− | +/+ | −/− | −/− |
| Family 2 | ||||||||||||
| II-3 | F | 45 | 100 | 4300 | Cirrhosis | Diabetes arthritis | * | −/− | +/+ | +/+ | −/− | −/− |
| Family 3 | ||||||||||||
| V-2 | M | 82 | ND | 2550 | Abnormal function findings | Arthritis | −/− | −/− | −/− | +/+ | −/− | |
| VI-3 | F | 45 | 100 | 400 | Normal | −/− | −/− | −/− | +/+ | −/− | ||
| VI-4† | F | 43 | 6 | 6 | Normal | −/− | −/− | −/− | +/+ | −/− | ||
| VI-5 | M | 39 | 100 | 938 | Fibrosis (1.99) | 4.9 | −/− | −/− | −/− | +/+ | −/− | |
| VI-7 | M | 44 | 70 | 1100 | Cirrhosis (2.85) | 7.2 | −/− | −/− | −/− | +/+ | −/− | |
| VI-8 | M | 29 | 78 | 1800 | Cirrhosis | 24 | −/− | −/− | −/− | +/+ | −/− | |
| Family 4 | ||||||||||||
| II-2‡ | M | 43 | 96 | 2350 | Cirrhosis (11.6) | Hypogonadism | 26 | −/− | −/− | −/− | −/− | +/+ |
| Cardiopathy arthritis | ||||||||||||
| . | Sex . | Age at diagnosis . | TS (%) . | SF (μg/L) . | Liver function (HII) . | Additional clinical findings . | IR (g) . | HFEmutations . | TFR2 mutations . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C282Y . | H63D . | Y250X . | E60X . | M172K . | ||||||||
| Family 1 | ||||||||||||
| V-11 | M | 47 | 100 | 3200 | Cirrhosis | Arthritis | * | −/− | −/− | +/+ | −/− | −/− |
| V-12 | M | 36 | 100 | 2600 | Abnormal function findings | * | −/− | −/− | +/+ | −/− | −/− | |
| V-13 | F | 45 | 78 | 329 | Abnormal function findings | * | −/− | −/− | +/+ | −/− | −/− | |
| VII-1 | F | 33 | 100 | 2310 | Normal | Hypogonadism | 9.2 | −/− | −/− | +/+ | −/− | −/− |
| VII-2 | M | 27 | 100 | 2930 | Normal | Hypogonadism | 15 | −/− | −/− | +/+ | −/− | −/− |
| Family 2 | ||||||||||||
| II-3 | F | 45 | 100 | 4300 | Cirrhosis | Diabetes arthritis | * | −/− | +/+ | +/+ | −/− | −/− |
| Family 3 | ||||||||||||
| V-2 | M | 82 | ND | 2550 | Abnormal function findings | Arthritis | −/− | −/− | −/− | +/+ | −/− | |
| VI-3 | F | 45 | 100 | 400 | Normal | −/− | −/− | −/− | +/+ | −/− | ||
| VI-4† | F | 43 | 6 | 6 | Normal | −/− | −/− | −/− | +/+ | −/− | ||
| VI-5 | M | 39 | 100 | 938 | Fibrosis (1.99) | 4.9 | −/− | −/− | −/− | +/+ | −/− | |
| VI-7 | M | 44 | 70 | 1100 | Cirrhosis (2.85) | 7.2 | −/− | −/− | −/− | +/+ | −/− | |
| VI-8 | M | 29 | 78 | 1800 | Cirrhosis | 24 | −/− | −/− | −/− | +/+ | −/− | |
| Family 4 | ||||||||||||
| II-2‡ | M | 43 | 96 | 2350 | Cirrhosis (11.6) | Hypogonadism | 26 | −/− | −/− | −/− | −/− | +/+ |
| Cardiopathy arthritis | ||||||||||||