Table 1 Clinical characteristics of the included HJV-HH cases
| Â | HJV-HH Cases with biallelic mutations | HJV-HH Cases with a single mutation | P | ||||
|---|---|---|---|---|---|---|---|
All | Probands | Non-probands | All | Probands | Non-probands | ||
N | 117 | 97 | 20 | 15 | 9 | 6 | Â |
Male, n (%) | 61 (52.14) | 52 (53.61) | 9 (45.00) | 10 (66.67) | 5 (55.56) | 5 (83.33) | 9.11 × 10-1C |
Ethnicities Caucasian/East Asian/African/ND, (%) | 98/18/1/0 (83.76/15.38/8.55/0.00) | 83/13/1/0 (85.57/13.40/1.03/0.00) | 15/5/0/0 (75.00/25.00/0.00/0.00) | 3/9/0/3 (20.00/60.00/0.00/20.00) | 2/4/0/3 (22.22/44.44/0.00/33.33) | 1/5/0/0 (16.67/83.33/0.00/0.00) | 6.71 × 10 -3 F a |
Homozygotes, n (%) | 89 (76.07) | 73 (75.26) | 16 (80.00) | — | — | — | — |
Age at diagnosis (year) | 25.00 (20.00, 32.00) | 26.00 (21.00, 32.00) | 21.00 (16.00, 28.50) | 53.00 (36.00, 65.00) | 58.00 (36.00, 62.00) | 48.00 (46.00, 70.00) | 8.02 × 10 -4 W |
Age at presentation (year) | 21.50 (18.00, 28.00) | 22.50 (19.50, 27.50) | 16.50 (13.00, 32.00) | — | — | — | — |
Disease onset before 30 years, n (%) | 88 (75.21) | 72 (74.23) | 16 (80.00) | 4 (26.67) | 3 (33.33) | 1 (16.67) | 1.75 × 10 -2 F |
Serum parameters at presentation | |||||||
 Serum ferritin (ng/ml) | 3541.80 (2270.00, 5293.00) | 3700.00 (2329.00, 5520.00) | 1971.50 (1117.50, 4314.00) | 444.00 (356.00, 1402.00) | 784.50 (388.50, 1512.50) | 382.50 (266.00, 554.00) | 2.70 × 10 -5 W |
 Transferrin saturation (%) | 94.00 (90.00, 100.00) | 95.00 (89.00, 100.00) | 92.00 (90.00, 97.00) | 49.00 (40.00, 68.00) | 64.00 (47.00, 83.00) | 40.00 (34.00, 46.00) | 1.03 × 10 -4 W |
Complications | |||||||
 Cardiomyopathy, n (%) | 40 (34.19) | 36 (37.11) | 4 (20.00) | 1 (6.67) | 1 (11.11) | 0 (0.00) | 1.57 × 10-1F |
 Skin hyperpigmentation, n (%) | 48 (41.03) | 40 (41.24) | 8 (40.00) | 2 (13.33) | 1 (11.11) | 1 (16.67) | 1.49 × 10-1F |
 Arthropathy, n (%) | 32 (27.35) | 27 (27.84) | 5 (25.00) | 1 (6.67) | 1 (11.11) | 0 (0.00) | 4.40 × 10-1F |
Endocrine abnormality | |||||||
 Hypogonadism, n (%) | 70 (59.83) | 63 (64.95) | 7 (35.00) | 2 (13.33) | 1 (11.11) | 1 (16.67) | 2.95 × 10 -3 F |
 Glucose intolerance, n (%) | 36 (30.77) | 33 (34.02) | 3 (15.00) | 2 (13.33) | 1 (11.11) | 1 (16.67) | 2.66 × 10-1F |
 Osteopathy, n (%) | 11 (9.40) | 7 (7.22) | 4 (20.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 1.00 × 10-1F |
 Thyroid abnormality, n (%) | 9 (7.69) | 7 (7.22) | 2 (10.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 1.00 × 10-1F |
Liver disease | |||||||
 Abnormal liver function test, n (%) | 39 (33.33) | 35 (36.08) | 4 (20.00) | 4 (26.67) | 3 (33.33) | 1 (16.67) | 1.00 × 10-1F |
 Liver iron deposition, n (%) | 74 (63.25) | 67 (69.07) | 7 (35.00) | 4 (26.67) | 4 (44.44) | 0 (0.00) | 1.53 × 10-1F |
 Liver fibrosis, n (%) | 43 (36.75) | 39 (40.21) | 4 (20.00) | 1 (6.67) | 1 (11.11) | 0 (0.00) | 1.49 × 10-1F |
 Liver cirrhosis, n (%) | 28 (23.93) | 26 (26.80) | 2 (10.00) | 1 (6.67) | 1 (11.11) | 0 (0.00) | 4.43 × 10-1F |
 Liver biopsy, n (%) | 62 (52.99) | 56 (57.73) | 6 (30.00) | 3 (20.00) | 3 (33.33) | 0 (0.00) | 1.81 × 10-1F |
Therapy Phlebotomy/Chelating agent/Phlebotomy & Chelating agent/ND, n (%) | 60/3/7/47 (51.28/2.56/5.98/40.17) | 46/3/7/41 (47.42/3.09/7.22/42.27) | 14/0/0/6 (70.00/0.00/0.00/30.00) | 3/0/0/12 (20.00/0.00/0.00/80.00) | 2/0/0/7 (22.22/0.00/0.00/77.78) | 1/0/0/5 (16.67/0.00/0.00/83.33) | — |