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Table 6 Correlations of mutation types with phenotypes in HJV-HH homozygous cases

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

 

Frameshift

Nonsense

Missense

Deletion

P frameshift-nonsense

P frameshift -missense

P nonsense-missense

N

7

14

51

1

   

Male, n (%)

5 (71.43%)

11 (78.57%)

27 (52.94%)

0 (0.00%)

1.00 × 10-0F

4.42 × 10-1F

1.27 × 10-1F

Ethnicities

Caucasian/East Asian/African, n (%)

6/1/0 (85.71/14.29/0.00)

9/4/1 (64.29/28.57/7.14)

48/3/0 (94.12/5.88/0.00)

1/0/0 (100.00/0.00/0.00)

6.13 × 10-1Fa

4.11 × 10-1Fa

2.68 × 10 -2 F a

Age at diagnosis (year)

21.00 (17.00, 25.00)

25.00 (19.00, 45.00)

28.00 (23.00, 32.00)

20.00

Pframeshift-nonsense-missense = 1.81 × 10-1K

Age at presentation (year)

21.00 (17.00, 25.00)

24.00 (19.00, 25.00)

25.00 (21.00, 31.00)

—

Pframeshift-nonsense-missense = 2.34 × 10-1K

Disease onset before 30 years, n (%)

7 (100.00%)

9 (64.29%)

37 (72.55%)

1 (100.00%)

1.24 × 10-1F

1.78 × 10-1F

5.29 × 10-1F

Serum parameters at presentation

 Serum ferritin (ng/ml)

4840.00 (2800.00, 5999.00)

2736.50 (1700.00, 7000.00)

3728.0 (2500.00, 5574.50)

1955.00

Pframeshift-nonsense-missense = 6.93 × 10-1K

 Transferrin saturation (%)

96.50 (94.00, 100.00)

94.00 (89.50, 97.30)

96.00 (90.00, 100.00)

—

Pframeshift-nonsense-missense = 3.73 × 10-1K

Complications

 Cardiomyopathy, n (%)

3 (42.86%)

6 (42.86%)

18 (35.29%)

1 (100.00%)

1.00 × 10-0F

6.96 × 10-1F

6.04 × 10-1C

 Skin hyperpigmentation, n (%)

2 (28.57%)

7 (50.00%)

20 (39.22%)

1 (100.00%)

6.42 × 10-1F

6.98 × 10-1F

4.68 × 10-1C

 Arthropathy, n (%)

0 (0.00%)

2 (14.29%)

15 (29.41%)

1 (100.00%)

5.33 × 10-1F

1.73 × 10-1F

3.23 × 10-1F

Endocrine abnormality

 Hypogonadism, n (%)

6 (85.71%)

5 (35.71%)

37 (72.55%)

1 (100.00%)

6.35 × 10-2F

6.64 × 10-1F

2.43 × 10 -2 F

 Glucose intolerance, n (%)

3 (42.86%)

7 (50.00%)

12 (23.53%)

0 (0.00%)

1.00 × 10-0F

3.60 × 10-1F

5.37 × 10-2C

 Osteopathy, n (%)

0 (0.00%)

0 (0.00%)

4 (7.84%)

1 (100.00%)

—

1.00 × 10-0F

1.00 × 10-0F

 Thyroid abnormality, n (%)

0 (0.00%)

1 (7.14%)

2 (3.92%)

0 (0.00%)

1.00 × 10-0F

1.00 × 10-0F

5.23 × 10-1F

Liver disease

 Abnormal liver function test, n (%)

3 (42.86%)

4 (28.57%)

19 (37.25%)

1 (100.00%)

6.38 × 10-1F

1.00 × 10-0F

7.54 × 10-1F

 Liver iron deposition, n (%)

5 (71.43%)

11 (78.57%)

33 (64.71%)

1 (100.00%)

1.00 × 10-0F

1.00 × 10-0F

5.20 × 10-1F

 Liver fibrosis, n (%)

5 (71.43%)

3 (21.43%)

24 (47.06%)

0 (0.00%)

5.55 × 10-2F

4.23 × 10-1F

1.27 × 10-1F

 Liver cirrhosis, n (%)

2 (28.57%)

3 (21.43%)

14 (27.45%)

1 (100.00%)

1.00 × 10-0F

1.00 × 10-0F

7.45 × 10-1F

 Liver biopsy, n (%)

6 (85.71%)

4 (28.57%)

31 (60.78%)

1 (100.00%)

2.37 × 10 -2 F

4.03 × 10-1F

3.93 × 10 -2 F

Therapy

Phlebotomy/Chelating agent/Phlebotomy & Chelating agent/ND, n (%)

3/0/1/3 (42.86/0.00/7.14/42.86)

9/1/0/4 (64.29/7.14/0.`00/28.57)

21/2/5/23 (41.18/3.92/9.80/45.10)

1/0/0/0 (100.00/0.00/0.00/0.00)

—

—

—

  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 among homozygotes with frame-shift mutation, nonsense mutation, and missense mutation using chi-square test, Fisher’s exact test, or Kruskal-Wallis test as appropriate. C, on chi-square test; F, on Fisher’s exact test; K, on Kruskal-Wallis test. a, compared the proportions of Caucasians and East Asians. P values <0.05 are denoted in bold and underlined
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172