Table 1 Demographic characteristics of patients in in different groups with HH
From: Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China
Characteristic | Total (32) | HJV (n = 8) | SLC40A1 (n = 6) | SUGP2 or DENND3 (n = 10) | HH without P or LP variants* (n = 6) | p |
|---|---|---|---|---|---|---|
Male, n (%) | 23(71.9) | 6 (75) | 4 (66.7) | 8 (80) | 4 (66.7) | 0.897 |
Age, y | 45.07 ± 15.94 (18–79) | 30.13 ± 12.12 | 56.33 ± 6.83 a | 48.30 ± 16.99 a | 48.33 ± 12.55 a | 0.007 |
SF, ng/ml | 2631.0 (1115.95, 6371.25) | 6153(3246.5,6922.5) | 5917.6 (2061.8,9333.8) | 972 ab (670.3,2467.1) | 1267 (1033.8,10129.7) | 0.010 |
TS, % | 92.30 (81.30,96.10) | 94.85 (92.25,97.5) | 92.25 (60.43,95.75) | 85.0(58.5,96.7) | 88.35(70.6,93.5) | 0.210 |
ALT, U/L | 72.0 (30.0,104.0) | 99.5(67.3,12) | 78.5(39.5,141.3) | 31(22.5,44.5) | 72(18.5,121.5) | 0.161 |
AST, U/L | 62.8 (34.6,103.0) | 92(64.4,121.0) | 60.4(37.6,111.8) | 33.4(22.9,48.5) | 72(20.7,124.3) | 0.051 |
GGT, U/L | 42 (27.00,72.0) | 48(34.3,75) | 38(19.8,278.3) | 29.9(26.5,58.5) | 56(22.5,403) | 0.622 |
TBIL, μmol/L | 37.88 ± 43.86 | 17.56 ± 8.85 | 18.79 ± 10.72 | 64.14 ± 62.59 a | 51.25 ± 48.90 | 0.094 |
ALB, g/L | 40.30 ± 8.33 | 43.98 ± 10.12 | 38.88 ± 3.87 | 39.14 ± 9.42 | 37.96 ± 7.58 | 0.540 |
Cirrhosis | 11 | 0 | 5 | 4 | 2 | 0.011 |
Skin pigmentation | 13 | 4 | 4 | 2 | 3 | 0.281 |
Arthropathy | 2 | 1 | 1 | 0 | 0 | 0.540 |
Cardiac involvement | 5 | 3 | 0 | 0 | 2 | 0.042 |
Diabetes | 11 | 3 | 5 | 1 | 2 | 0.035 |
Hypogonadism | 9 | 5 | 3 | 1 | 0 | 0.020 |