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Table 1 Clinical characteristics of the included HJV-HH cases

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

  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  
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)
  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 probands with biallelic mutations and probands with a single mutation 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. a, compared the proportions of Caucasians and East Asians. P values <0.05 are denoted in bold and underlined