Association of the iron isotopic composition of blood (δ56Fe/54Fe; means ± 1 SD) with clinical manifestations in patients with hemochromatosis homozygous for the HFE G845A (C282Y) mutation
Clinical manifestations of hemochromatosis . | δ56Fe/54Fe, ‰ . | P . |
|---|---|---|
| Liver disease | ||
| Histologic examination | ||
| Substantial fibrosis,* n = 15 | - 1.90 ± 0.34 | .003 |
| No substantial fibrosis* in histologic examination or no biopsy carried out in the presence of normal ALT, n = 10 | - 2.43 ± 0.47 | |
| Serum alanine aminotransferase concentration measured at the time of diagnosis | ||
| ALT above the reference range, n = 17 | - 1.89 ± 0.37 | < .001 |
| ALT within the reference range, n = 10 | - 2.48 ± 0.42 | |
| Arthropathy of metacarpophalangeal joints | ||
| Present, n = 17 | - 1.93 ± 0.40 | .019 |
| Absent, n = 13 | - 2.33 ± 0.47 | |
| Diabetes mellitus | ||
| Present, n = 3 | - 1.88 ± 0.35 | NS |
| Absent, n = 27 | - 2.13 ± 0.48 | |
| Cardiopathy, n = 1 | - 1.59 | |
| Hypogonadism, n = 1 | - 2.02 | |
| Total no. of clinical manifestations† | ||
| 2 or more, n = 14 | - 1.89 ± 0.37 | .003 |
| 1, n = 9 | - 2.09 ± 0.42 | |
| 0, n = 7 | - 2.56 ± 0.41 |
Clinical manifestations of hemochromatosis . | δ56Fe/54Fe, ‰ . | P . |
|---|---|---|
| Liver disease | ||
| Histologic examination | ||
| Substantial fibrosis,* n = 15 | - 1.90 ± 0.34 | .003 |
| No substantial fibrosis* in histologic examination or no biopsy carried out in the presence of normal ALT, n = 10 | - 2.43 ± 0.47 | |
| Serum alanine aminotransferase concentration measured at the time of diagnosis | ||
| ALT above the reference range, n = 17 | - 1.89 ± 0.37 | < .001 |
| ALT within the reference range, n = 10 | - 2.48 ± 0.42 | |
| Arthropathy of metacarpophalangeal joints | ||
| Present, n = 17 | - 1.93 ± 0.40 | .019 |
| Absent, n = 13 | - 2.33 ± 0.47 | |
| Diabetes mellitus | ||
| Present, n = 3 | - 1.88 ± 0.35 | NS |
| Absent, n = 27 | - 2.13 ± 0.48 | |
| Cardiopathy, n = 1 | - 1.59 | |
| Hypogonadism, n = 1 | - 2.02 | |
| Total no. of clinical manifestations† | ||
| 2 or more, n = 14 | - 1.89 ± 0.37 | .003 |
| 1, n = 9 | - 2.09 ± 0.42 | |
| 0, n = 7 | - 2.56 ± 0.41 |
NS indicates not significant.
Either substantial portal fibrosis, or septal/bridging fibrosis or cirrhosis of liver tissue
Assessing total number of clinical manifestations, liver disease was defined as substantial fibrosis in histologic examination or, in patients with biopsy, elevated ALT at the time of diagnosis