Characteristics at diagnosis of patients with juvenile hemochromatosis
. | Kinship, case number . | . | . | . | . | . | . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
. | A, II-5 . | A, II-6 . | A, III-1 . | A, III-2 . | A, III-3 . | A, III-6 . | B, II-3 . | ||||||
| HJV genotype | C80R/L101P | C80R/L101P | L101P/L101P | L101P/L101P | L101P/L101P | L101P/L101P | I222N/G320V | ||||||
| Age at diagnosis, y/sex | 23/F | 21/F | 23/F | 21/M | 18/F | 8/F | 23/F | ||||||
| Age at first objective symptoms, y | 18 | 17 | 13 | 15 | 12 | — | 17 | ||||||
| Serum iron, μM | 49.4 | 58.2 | 47.1 | 42.1 | 46 | 49.6 | 39.0 | ||||||
| Transferrin saturation, % | 96 | 98 | 90 | 97 | 92 | 90 | 85 | ||||||
| Serum ferritin, μg/L | ND | ND | 2647 | 4425 | 2003 | 1047 | ND | ||||||
| Hypogonadotrophic hypogonadism | Yes | Yes | Yes | Yes | Yes | No | Yes | ||||||
| Cardiomyopathy | No | No | No | Yes | No | No | Yes | ||||||
| Hepatomegaly | Yes | Yes | Yes | Yes | Yes | Yes | Yes | ||||||
| Hepatic cirrhosis on biopsy | No | No | ND | Yes | ND | ND | Yes | ||||||
. | Kinship, case number . | . | . | . | . | . | . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
. | A, II-5 . | A, II-6 . | A, III-1 . | A, III-2 . | A, III-3 . | A, III-6 . | B, II-3 . | ||||||
| HJV genotype | C80R/L101P | C80R/L101P | L101P/L101P | L101P/L101P | L101P/L101P | L101P/L101P | I222N/G320V | ||||||
| Age at diagnosis, y/sex | 23/F | 21/F | 23/F | 21/M | 18/F | 8/F | 23/F | ||||||
| Age at first objective symptoms, y | 18 | 17 | 13 | 15 | 12 | — | 17 | ||||||
| Serum iron, μM | 49.4 | 58.2 | 47.1 | 42.1 | 46 | 49.6 | 39.0 | ||||||
| Transferrin saturation, % | 96 | 98 | 90 | 97 | 92 | 90 | 85 | ||||||
| Serum ferritin, μg/L | ND | ND | 2647 | 4425 | 2003 | 1047 | ND | ||||||
| Hypogonadotrophic hypogonadism | Yes | Yes | Yes | Yes | Yes | No | Yes | ||||||
| Cardiomyopathy | No | No | No | Yes | No | No | Yes | ||||||
| Hepatomegaly | Yes | Yes | Yes | Yes | Yes | Yes | Yes | ||||||
| Hepatic cirrhosis on biopsy | No | No | ND | Yes | ND | ND | Yes | ||||||
The characteristics are based on an earlier publication.4 —indicates not known; and ND, not done.