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Table 5 Correlations of mutation locations with phenotypes in HJV-HH homozygous cases

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

  Exon 2-3 Exon 4 P
N 23 50  
Male, n (%) 14 (60.87%) 29 (58.00%) 8.17 × 10-1C
Ethnicities
Caucasian/East Asian/African, n (%)
20/3/0 (86.96/13.04/0.00) 44/5/1 (88.00/10.00/2.00) 7.04 × 10-1Fa
Age at diagnosis (year) 23.00 (20.00, 26.00) 28.00 (24.00, 37.00) 6.96 × 10 -3 W
Age at presentation (year) 22.50 (20.00, 25.50) 25.00 (20.00, 32.00) 1.71 × 10-1W
Disease onset before 30 years, n (%) 21 (91.30%) 33 (66.00%) 2.40 × 10 -2 C
Serum parameters at presentation
 Serum ferritin (ng/ml) 3065.00 (2000.00, 4485.00) 4018.50 (2500.00, 6008.50) 1.23 × 10-1W
 Transferrin saturation (%) 95.00 (90.00, 100.00) 96.00 (91.00, 100.00) 5.62 × 10-1W
Complications
 Cardiomyopathy, n (%) 7 (30.43%) 21 (42.00%) 3.45 × 10-1C
 Skin hyperpigmentation, n (%) 5 (21.74%) 25 (50.00%) 3.92 × 10 -2 F
 Arthropathy, n (%) 4 (17.39%) 14 (28.00%) 3.94 × 10-1F
Endocrine abnormality
 Hypogonadism, n (%) 18 (78.26%) 31 (62.00%) 1.70 × 10-1C
 Glucose intolerance, n (%) 6 (26.09%) 16 (32.00%) 6.09 × 10-1C
 Osteopathy, n (%) 1 (4.35%) 4 (8.00%) 1.00 × 10-1F
 Thyroid abnormality, n (%) 0 (0.00%) 3 (6.00%) 5.47 × 10-1F
Liver disease
 Abnormal liver function test, n (%) 8 (34.78%) 19 (38.00%) 7.91 × 10-1C
 Liver iron deposition, n (%) 15 (65.22%) 35 (70.00%) 6.83 × 10-1C
 Liver fibrosis, n (%) 12 (52.17%) 20 (40.00%) 3.30 × 10-1C
 Liver cirrhosis, n (%) 7 (30.43%) 13 (26.00%)) 6.93 × 10-1C
 Liver biopsy, n (%) 17 (73.91%) 25 (50.00%) 5.48 × 10-2C
Therapy
Phlebotomy/Chelating agent/Phlebotomy & Chelating agent/ND, n (%)
6/0/2/15 (26.09/0.00/8.70/65.22) 28/3/4/15 (56.00/6.00/8.00/30.00)
  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 intergroup differences between homozygotes with exon 2-3 mutation and homozygotes with exon 4 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