Table 2 Comparisons of the clinical characteristics of early-onset versus late-onset HJV-HH cases with biallelic mutations
| Â | Probands | Non-probands | ||||
|---|---|---|---|---|---|---|
Onset age ≤30 years | Onset age >30 years | P | Onset age ≤30 years | Onset age >30 years | P | |
N | 72 | 25 | Â | 16 | 4 | Â |
Male, n (%) | 37 (51.39) | 15 (60.00) | 4.57 × 10-1C | 8 (50.00) | 1 (25.00) | 5.91 × 10-1F |
Homozygotes, n (%) | 54 (75.00) | 19 (76.00) | 9.21 × 10-1C | 12 (75.00) | 4 (100.00) | 5.38 × 10-1F |
Age at diagnosis (year) | 24.00 (19.50, 27.50) | 39.00 (32.00, 49.00) | 1.53 × 10 -12 W | 19.00 (16.00, 22.50) | 45.50 (36.00, 53.00) | 2.86 × 10 -3 W |
Age at presentation (year) | 21.00 (18.00, 25.00) | 33.50 (32.00, 39.00) | 7.10 × 10 -7 W | 15.00 (12.00, 17.00) | 34.00 (32.00, 49.00) | 2.18 × 10 -2 W |
Serum parameters at presentation | ||||||
 Serum ferritin (ng/ml) | 3520.90 (2291.50, 5782.50) | 3987.00 (2680.00, 4959.00) | 6.16 × 10-1W | 1971.50 (1117.50, 3498.50) | 2753.50 (869.50, 6981.50) | 9.52 × 10-1W |
 Transferrin saturation (%) | 95.50 (89.00, 100.00) | 93.50 (89.00, 99.50) | 4.73 × 10-1W | 92.00 (90.00, 98.00) | 92.00 (75.00, 94.90) | 5.46 × 10-1W |
Complications | ||||||
 Cardiomyopathy, n (%) | 29 (40.28) | 7 (28.00) | 2.74 × 10-1C | 3 (18.75) | 1 (25.00) | 1.00 × 10-0F |
 Skin hyperpigmentation, n (%) | 29 (40.28) | 11 (44.00) | 7.45 × 10-1C | 6 (37.50) | 2 (50.00) | 1.00 × 10-0F |
 Arthropathy, n (%) | 18 (25.00) | 9 (36.00) | 2.90 × 10-1C | 4 (25.00) | 1 (25.00) | 1.00 × 10-0F |
Endocrine abnormality | ||||||
 Hypogonadism, n (%) | 54 (75.00) | 9 (36.00) | 4.30 × 10 -4 C | 6 (37.50) | 1 (25.00) | 1.00 × 10-0F |
 Glucose intolerance, n (%) | 21 (29.17) | 12 (48.00) | 8.68 × 10-2C | 2 (12.50) | 1 (25.00) | 5.09 × 10-1F |
 Osteopathy, n (%) | 6 (8.33) | 1 (4.00) | 6.73 × 10-1F | 4 (25.00) | 0 (0.00) | 5.38 × 10-1F |
 Thyroid abnormality, n (%) | 4 (5.56) | 3 (12.00) | 3.69 × 10-1F | 3 (18.75) | 1 (25.00) | 1.00 × 10-0F |
Liver disease | ||||||
 Abnormal liver function test, n (%) | 23 (31.94) | 12 (48.00) | 1.50 × 10-1C | 3 (18.75) | 1 (25.00) | 1.00 × 10-0F |
 Liver iron deposition, n (%) | 43 (59.72) | 24 (96.00) | 7.22 × 10 -4 C | 6 (37.50) | 1 (25.00) | 1.00 × 10-0F |
 Liver fibrosis, n (%) | 31 (43.06) | 8 (32.00) | 3.31 × 10-1C | 3 (18.75) | 1 (25.00) | 1.00 × 10-0F |
 Liver cirrhosis, n (%) | 20 (27.78) | 6 (24.00) | 7.13 × 10-1C | 1 (6.25) | 1 (25.00) | 3.68 × 10-1F |
 Liver biopsy, n (%) | 41 (56.94) | 15 (60.00) | 7.90 × 10-1C | 5 (31.25) | 1 (25.00) | 1.00 × 10-0F |
Therapy Phlebotomy/Chelating agent/Phlebotomy & Chelating agent/ND, n (%) | 28/2/6/36 (38.89/2.78/8.33/50.00) | 18/1/1/5 (72.00/4.00/4.00/20.00) | — | 11/0/0/5 (68.75/0.00/0.00/31.25) | 3/0/0/1 (75.00/0.00/0.00/25.00) | — |