Table 1 Clinical characteristics of Chinese heterozygotes with p.Y333H mutation in SLC40A1 gene
Patient number | Sex | Age | Iron test | Liver enzyme levels | Iron deposition on MRI | Organ damage manifestations | ||
|---|---|---|---|---|---|---|---|---|
SF (µg/L) | TS (%) | ALT (U/L) | AST (U/L) | |||||
H1 (proband) | M | 64 | 5061 | 99.1 | 90.5 | 72.1 | Liver, spleen, pancreas, vertebrae | Cirrhosis, diabetes, arthropathy, osteopenia |
H1-1 (daughter) | F | 32 | 20.9 | 23.3 | 11.2 | 22 | No deposition | No damage |
H1-2 (son) | M | 30 | 1263.7 | 97.6 | 58.1 | 34.8 | Liver | Abnormal liver enzymes |
H1-3 (brother) | M | 59 | > 1500 | 95.6 | 81.8 | 38.4 | Liver | Cirrhosis, arthropathy |
H1-3-1 (nephew) | M | 30 | > 1500 | 96.5 | 93.2 | 33.5 | Liver | Liver fibrosis, diabetes |
H2a (proband) | M | 49 | 7445 | 97.3 | 83 | 87 | Liver, spleen, pancreas | Cirrhosis, diabetes, arthropathy, loss of libido |
H2-1a (son) | M | 16 | 120 | 69.6 | 24 | 19 | NA | No damage |
H3a (proband) | M | 60 | 15000 | 94.0 | 304 | 198 | Liver, spleen, pancreas | Cirrhosis, diabetes |
H4a (proband) | F | 66 | 1446 | 92.7 | 17 | 33 | Liver, spleen, pancreas | Cirrhosis, diabetes |
H4-1a (son) | M | 38 | 2332 | 92.0 | 73 | 32.5 | Liver | Abnormal liver enzymes |
H5b (proband) | F | 53 | 5651.3 | 99.4 | 200 | 84 | Liver | Abnormal liver enzymes |
H5-1b (daughter) | F | 30 | 190.1 | 80.0 | 12.3 | 16.2 | NA | No damage |