Table 3 Comparisons of the clinical characteristics of Caucasian versus East Asian HJV-HH cases with biallelic mutations
| Â | Probands | Non-probands | ||||
|---|---|---|---|---|---|---|
Caucasians | East Asians | P | Caucasians | East Asians | P | |
N | 83 | 13 | Â | 15 | 5 | Â |
Male, n (%) | 40 (48.19) | 11 (84.62) | 1.72 × 10 -2 F | 6 (40.00) | 3 (60.00) | 6.17 × 10-1F |
Homozygotes, n (%) | 64 (77.11) | 8 (61.54) | 3.00 × 10-1F | 12 (80.00) | 4 (80.00) | 1.00 × 10-1F |
Age at diagnosis (year) | 26.00 (21.00, 32.00) | 26.00 ( 19.00, 37.00) | 6.72 × 10-1W | 20.00 ( 16.00, 24.00) | 27.00 ( 22.00, 51.00) | 8.03 × 10-2W |
Age at presentation (year) | 22.50 (20.00, 27.00) | 21.50 ( 14.00, 48.00) | 8.73 × 10-1W | — | — | — |
Disease onset before 30 years, n (%) | 63 (75.90) | 8 (61.54) | 3.13 × 10-1F | 13 (86.67) | 3 (60.00) | 2.49 × 10-1F |
Serum parameters at presentation | ||||||
 Serum ferritin (ng/ml) | 3553.00 (2329.00, 5293.00) | 4974.00 (2337.00,6678.00) | 2.21 × 10-1W | 1648.00 (1117.50, 3498.50) | 3389.00 (1505.00,5273.50) | 6.71 × 10-1W |
 Transferrin saturation (%) | 95.00 (88.00, 100.00) | 94.40 ( 92.05, 97.55) | 9.80 × 10-1W | 92.00 (80.00, 98.00) | 93.70 ( 91.00, 95.60) | 8.01 × 10-1W |
Complications | ||||||
 Cardiomyopathy, n (%) | 29 (34.94) | 7 (53.85) | 2.26 × 10-1F | 3 (20.00) | 1 (20.00) | 1.00 × 10-1F |
 Skin hyperpigmentation, n (%) | 35 (42.17) | 5 (38.46) | 1.00 × 10-0F | 6 (40.00) | 2 (40.00) | 1.00 × 10-1F |
 Arthropathy, n (%) | 27 (32.53) | 0 (0.00) | 1.69 × 10 -2 F | 5 (33.33) | 0 (0.00) | 2.66 × 10-1F |
Endocrine abnormality | ||||||
 Hypogonadism, n (%) | 59 (71.08) | 4 (30.77) | 9.30 × 10 -3 F | 6 (40.00) | 1 (20.00) | 6.13 × 10-1F |
 Glucose intolerance, n (%) | 26 (31.33) | 7 (53.85) | 1.27 × 10-1F | 1 (6.67) | 2 (40.00) | 1.40 × 10-1F |
 Osteopathy, n (%) | 7 (8.43) | 0 (0.00) | 5.88 × 10-1F | 4 (26.67) | 0 (0.00) | 5.30 × 10-1F |
 Thyroid abnormality, n (%) | 7 (8.43) | 0 (0.00) | 5.88 × 10-1F | 2 (13.33) | 0 (0.00) | 1.00 × 10-1F |
Liver disease | ||||||
 Abnormal liver function test, n (%) | 28 (33.73) | 7 (53.85) | 2.17 × 10-1F | 2 (13.33) | 2 (40.00) | 2.49 × 10-1F |
 Liver iron deposition, n (%) | 55 (66.27) | 11 (84.62) | 3.34 × 10-1F | 5 (33.33) | 2 (40.00) | 1.00 × 10-1F |
 Liver fibrosis, n (%) | 36 (43.37) | 3 (23.08) | 2.29 × 10-1F | 4 (26.67) | 0 (0.00) | 5.30 × 10-1F |
 Liver cirrhosis, n (%) | 22 (26.51) | 4 (30.77) | 7.45 × 10-1F | 1 (6.67) | 1 (20.00) | 4.47 × 10-1F |
Liver biopsy, n (%) | 48 (57.83) | 8 (61.54) | 1.00 × 10-1F | 4 (26.67) | 2 (40.00) | 6.13 × 10-1F |
Therapy Phlebotomy/Chelating agent/Phlebotomy & Chelating agent/ND, n (%) | 41/2/6/34 (49.40/2.41/7.23/40.96) | 5/0/1/7 (38.46/0.00/7.69/53.85) | — | 12/0/0/3 (80.00/0.00/0.00/20.00) | 2/0/0/3 (40.00/0.00/0.00/60.00) | — |