Genotype and phenotype of JH probands from the Indian subcontinent
| Family/patient . | Sex . | Age at diagnosis, y . | Tsat, % . | Ferritin, μg/L . | Hypogonadism . | Diabetes . | Liver biopsy . | HJV mutation . | HAMP mutation . |
|---|---|---|---|---|---|---|---|---|---|
| A | F | 19 | 100 | 5293 | + | + | ND | C80Y/G320V | WT |
| B/ IV-6 | M | 26 | Raised | 4485 | + | + | IE, C | G99R | WT |
| C | F | 11 | ND | 3772 | ND | ND | IE | G99R | WT |
| D | M | 23 | Raised | >6000 | + | ND | IE, C | P192L | WT |
| E | M | 32 | 100 | 3756 | + | − | IE, F | L194P | WT |
| F | M | 17 | 94 | 5999 | + | + | IE, F | A343PfsX23 | WT |
| G | M | 21 | >97 | 5686 | + | − | ND | WT | R42Sfs |
| Family/patient . | Sex . | Age at diagnosis, y . | Tsat, % . | Ferritin, μg/L . | Hypogonadism . | Diabetes . | Liver biopsy . | HJV mutation . | HAMP mutation . |
|---|---|---|---|---|---|---|---|---|---|
| A | F | 19 | 100 | 5293 | + | + | ND | C80Y/G320V | WT |
| B/ IV-6 | M | 26 | Raised | 4485 | + | + | IE, C | G99R | WT |
| C | F | 11 | ND | 3772 | ND | ND | IE | G99R | WT |
| D | M | 23 | Raised | >6000 | + | ND | IE, C | P192L | WT |
| E | M | 32 | 100 | 3756 | + | − | IE, F | L194P | WT |
| F | M | 17 | 94 | 5999 | + | + | IE, F | A343PfsX23 | WT |
| G | M | 21 | >97 | 5686 | + | − | ND | WT | R42Sfs |
All patients shown are homozygous for their mutations except the proband in family A, who is a compound heterozygote. Normal values for transferrin saturation (Tsat) were 15%-45%; ferritin, 15-200 μg/L for females, 40-300 μg/L for males. + indicates presence of symptom; –, absence of symptom; ND, not determined; IE, iron excess; C, cirrhosis; and F, fibrosis.