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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