Table 3 Genetic characteristics of 32 patients in HH cases
From: Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China
NO | Age | Gender | SF (ng/ml) | TS (%) | Iron deposition on liver biopsy | Iron overload on MRI | Known HH-related genes | Iron homeostasis -related genes |
|---|---|---|---|---|---|---|---|---|
1 | 26 | M | 7004 | 92.0 | Predominant in hepatocytes | Liver | HJV p.Q6H/C321X/I281T | – |
2 | 28 | M | 6269 | 95.4 | Predominant in hepatocytes | Liver, pancreas | HJV p.Q6H/C321X/I281T | – |
3 | 22 | F | 2995 | 89.1 | Predominant in hepatocytes | Liver, pancreas | HJV p. Q312X (homo) | – |
4 | 18 | M | 6678 | 100 | Predominant in hepatocytes | ND | HJV p.Q6H/C321X/H104R | – |
5 | 57 | M | 4001 | 93.0 | Predominant in hepatocytes | Liver | HJV p.Q6H/C321X/V274M | – |
6 | 36 | F | 2000 | 96.0 | Predominant in hepatocytes | Liver | HJV p. F103L (homo) | – |
7 | 30 | M | 11,555 | 98.0 | ND | Liver, spleen, pancreas | HJV p. Q6H(homo)/ C321X (homo) | – |
8 | 24 | M | 6037 | 94.3 | ND | Liver, pancreas | HJV p. Q6H(homo)/C321X (homo) | – |
9 | 57 | F | 5886.1 | 71.1 | Hepatocytes and reticuloendothelial cells | Liver, spleen, pancreas | SLC40A1 p. N144D | – |
10 | 66 | F | 1446.2 | 92.7 | ND | Liver, spleen, pancreas | SLC40A1 p. Y333H | SUGP2 p. R639Q |
11 | 48 | M | 2267- | 91.8 | ND | Liver, spleen, pancreas | SLC40A1 p. V511I | – |
12 | 58 | M | 5949 | 28.4 | Predominant in hepatocytes | Liver, spleen | SLC40A1 p. v162del | – |
13 | 49 | M | 7445 | 97.0 | Predominant in hepatocytes | Liver, spleen | SLC40A1 p. Y333H | – |
14 | 60 | M | 15,000 | 94.0 | Predominant in hepatocytes | Liver, spleen, pancreas | SLC40A1 p. Y333H | – |
15 | 79 | M | 493.8 | 97.1- | ND | Liver, pancreas | – | SUGP2 p. R639Q |
16 | 63 | M | 3868 | 97.7 | Predominant in hepatocytes | Liver, spleen | – | SUGP2 p. R639Q |
17 | 67 | M | 1102 | 92.3 | Predominant in hepatocytes | Liver, spleen | – | DENND3 p. L708V(homo) SUGP2 p. R639Q |
18 | 28 | M | 738 | 46.4 | Predominant in hepatocytes | ND | – | DENND3 p. L708V |
19 | 38 | F | 843 | 96.2 | Predominant in hepatocytes | ND | – | DENND3 p. L708V |
20 | 53 | F | 1402 | 49.0 | Predominant in hepatocytes | Liver, spleen | – | SUGP2 p. R639Q |
21 | 46 | M | 2000 | 85.0 | ND | Liver, spleen | – | SUGP2 p. R639Q |
22 | 45 | M | 685 | - | Predominant in hepatocytes | ND | – | DENND3 p. L708V |
23 | 33 | M | 626 | 68.0 | Hepatocytes and reticuloendothelial cells | ND | – | SUGP2 p. R639Q |
24 | 31 | M | 6000 | 81.0 | ND | Liver | – | DENND3 p. L708V |
25 | 66 | F | 12,703- | 91.7 | Predominant in hepatocytes | Liver, spleen, pancreas | – | – |
26 | 50 | F | 9272 | 81.6 | Predominant in hepatocytes | Liver, spleen, pancreas | – | – |
27 | 53 | M | 1121 | 37.6 | Predominant in reticuloendothelial cells | Liver, spleen | – | – |
28 | 53 | M | 773 | 96.8 | Predominant in hepatocytes | Liver | – | – |
29 | 31 | M | 1220 | 92.4 | ND | Liver, spleen, pancreas | – | – |
30 | 37 | M | 1316 | 85.0 | ND | Liver, spleen | – | – |
31 | 48 | F | 7078 | 99.7 | Predominant in hepatocytes | Liver, spleen | SLC40A1 IVS3 + 10delGTT | SUGP2 p. R639Q(homo) |
32 | 28 | M | 2153 | 91.7 | Predominant in hepatocytes | Liver | HFE p.C282Y/R71X | – |