Table 6.
Correlations of mutation types with phenotypes in HJV-HH homozygous cases
| 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) | — | — | — |
Abbreviations: HJV-HH HJV-related hereditary hemochromatosis, ND not described
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