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Table 2 Comparisons of the clinical characteristics of early-onset versus late-onset HJV-HH cases with biallelic mutations

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

  Probands Non-probands
Onset age ≤30 years Onset age >30 years P Onset age ≤30 years Onset age >30 years P
N 72 25   16 4  
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)
  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 cases with onset age ≤30 years and cases with onset age >30 years among probands or non-probands using chi-square test, Fisher’s exact test or Wilcoxon test as appropriate. C, on chi-square test; F, on Fisher’s exact test; W, on Wilcoxon test. P values <0.05 are denoted in bold and underlined