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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)

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  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