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Table 3 Comparisons of the clinical characteristics of Caucasian versus East Asian HJV-HH cases with biallelic mutations

From: Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review

  Probands Non-probands
Caucasians East Asians P Caucasians East Asians P
N 83 13   15 5  
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)
  1. Abbreviations: HJV-HH HJV-related hereditary hemochromatosis, ND not described
  2. Data are shown as n (%) or median (interquartile range). P values were calculated to assess the differences between Caucasians and East Asians using Fisher’s exact test or Wilcoxon test as appropriate. F, on Fisher’s exact test; W, on Wilcoxon test. P values <0.05 are denoted in bold and underlined