Genotype-phenotype correlation in patients
No. . | Patients* . | Sex . | Age, y . | TS, % . | SF, μg/L . | Cardiomyopathy . | Hypogonadism . | Liver biopsy histology . | Patient/family . | HJV mutation . | Reference . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F1 II-1 | F | 15 | 88 | 615 | − | − | Fb | 2† | R385X | De Gobbi et al10 |
| 2 | F2 II-1 | F | 20 | 82 | 1400 | − | + | C | 1 | F170S | De Gobbi et al10 |
| 3 | F3 II-1 | F | 21 | 84 | 3500 | − | + | Fb | 1 | W191C | De Gobbi et al10 |
| 4 | F4 II-2 | M | 20 | ND | 2000 | − | + | — | 1 | R385X | De Gobbi et al10 |
| 5 | F5 II-1‡ | F | 20 | 98 | 3768 | + | + | C | 1 | D149fsX245 | De Gobbi et al10 |
| 6 | F7 II-2 | F | 21 | 75 | 2300 | + | + | Fb | 2 | S205R/G250V | De Gobbi et al10 |
| 7 | F8 II-5 | F | 14 | 92 | 3280 | − | + | Fb | 2 | F170S | De Gobbi et al10 |
| 8 | F9 II-2 | F | 24 | 100 | 2130 | − | + | C | 2 | V74fsX113/N269fsX311 | De Gobbi et al10 |
| 9 | F10 II-2 | M | 21 | 100 | 2850 | − | + | C | 2 | D149fsX245 | De Gobbi et al10 |
| 10 | F18 II-1 | F | 20 | 100 | 4840 | + | + | — | 1 | R131fsX245 | De Gobbi et al10 |
| 11 | F19 II-1 | M | 29 | 100 | 5665 | − | + | C | 1 | G320V | De Gobbi et al10 |
| 12 | F | 30 | 100 | 823 | − | + | Fb | 1 | S85P | Unpublished | |
| 13 | F | 26 | 100 | 12 500 | + | + | Fb | 2† | R288W | Durand et al23 | |
| 14 | F | 20 | ND | 2500 | + | + | — | 2† | D172E/G319fsX341 | Unpublished | |
| 15 | M | 28 | ND | — | − | + | — | 3 | A168D | Unpublished | |
| 16 | F | 26 | 100 | 2500 | + | + | — | 1 | L101P/G99R | Unpublished | |
| 17 | M | 22 | 95 | 2800 | − | + | Fb | 2 | D149fsX245 | Unpublished | |
| 18 | 1057 | F | 27 | 100 | > 2500 | + | + | — | G320V | Rivard et al21 |
No. . | Patients* . | Sex . | Age, y . | TS, % . | SF, μg/L . | Cardiomyopathy . | Hypogonadism . | Liver biopsy histology . | Patient/family . | HJV mutation . | Reference . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F1 II-1 | F | 15 | 88 | 615 | − | − | Fb | 2† | R385X | De Gobbi et al10 |
| 2 | F2 II-1 | F | 20 | 82 | 1400 | − | + | C | 1 | F170S | De Gobbi et al10 |
| 3 | F3 II-1 | F | 21 | 84 | 3500 | − | + | Fb | 1 | W191C | De Gobbi et al10 |
| 4 | F4 II-2 | M | 20 | ND | 2000 | − | + | — | 1 | R385X | De Gobbi et al10 |
| 5 | F5 II-1‡ | F | 20 | 98 | 3768 | + | + | C | 1 | D149fsX245 | De Gobbi et al10 |
| 6 | F7 II-2 | F | 21 | 75 | 2300 | + | + | Fb | 2 | S205R/G250V | De Gobbi et al10 |
| 7 | F8 II-5 | F | 14 | 92 | 3280 | − | + | Fb | 2 | F170S | De Gobbi et al10 |
| 8 | F9 II-2 | F | 24 | 100 | 2130 | − | + | C | 2 | V74fsX113/N269fsX311 | De Gobbi et al10 |
| 9 | F10 II-2 | M | 21 | 100 | 2850 | − | + | C | 2 | D149fsX245 | De Gobbi et al10 |
| 10 | F18 II-1 | F | 20 | 100 | 4840 | + | + | — | 1 | R131fsX245 | De Gobbi et al10 |
| 11 | F19 II-1 | M | 29 | 100 | 5665 | − | + | C | 1 | G320V | De Gobbi et al10 |
| 12 | F | 30 | 100 | 823 | − | + | Fb | 1 | S85P | Unpublished | |
| 13 | F | 26 | 100 | 12 500 | + | + | Fb | 2† | R288W | Durand et al23 | |
| 14 | F | 20 | ND | 2500 | + | + | — | 2† | D172E/G319fsX341 | Unpublished | |
| 15 | M | 28 | ND | — | − | + | — | 3 | A168D | Unpublished | |
| 16 | F | 26 | 100 | 2500 | + | + | — | 1 | L101P/G99R | Unpublished | |
| 17 | M | 22 | 95 | 2800 | − | + | Fb | 2 | D149fsX245 | Unpublished | |
| 18 | 1057 | F | 27 | 100 | > 2500 | + | + | — | G320V | Rivard et al21 |
TS indicates transferrin saturation; SF, serum ferritin; ND, not done; Fb, fibrosis; C, cirrhosis; +, presence of complication; and −, absence of complication.
Clinical data of the proband are shown for each family. A single patient is shown from the 12 related Canadian families.
One subject died as a result of cardiac failure.
β-thalassemia trait.