Findings in 46 subjects with serum ferritin above 1000 μg/L
| HFE genotype . | n . | Age, y* . | Serum ferritin, μg/L† . | Clinical diagnosis‡ . |
|---|---|---|---|---|
| C282Y/C282Y | ||||
| Men | 28 | 48.6 (10.9) | 1612 (1383-1879) | Hemochromatosis: 28 |
| Women | 4 | 54.8 (17.3) | 1164 (912-1484) | Hemochromatosis: 4 |
| Other HFE mutations | ||||
| Men | 1 | 55.0 | 1473 | Alcohol overuse: 1 |
| Women | 4 | 76.8 (8.3) | 1989 (1084-3651) | Hemochromatosis: 1; chronic iron overdose: 2; uncertain: 1 |
| No HFE mutation or HFE genotype unknown | ||||
| Men | 5 | 51.0 (14.6) | 1766 (1072-2908) | Hemochromatosis: 2; lymphoma: 1§;leukemia: 1§; chronic iron overdose: 1 |
| Women | 4 | 75.5 (12.4) | 1489 (1077-2059) | Chronic iron overdose: 4¶ |
| HFE genotype . | n . | Age, y* . | Serum ferritin, μg/L† . | Clinical diagnosis‡ . |
|---|---|---|---|---|
| C282Y/C282Y | ||||
| Men | 28 | 48.6 (10.9) | 1612 (1383-1879) | Hemochromatosis: 28 |
| Women | 4 | 54.8 (17.3) | 1164 (912-1484) | Hemochromatosis: 4 |
| Other HFE mutations | ||||
| Men | 1 | 55.0 | 1473 | Alcohol overuse: 1 |
| Women | 4 | 76.8 (8.3) | 1989 (1084-3651) | Hemochromatosis: 1; chronic iron overdose: 2; uncertain: 1 |
| No HFE mutation or HFE genotype unknown | ||||
| Men | 5 | 51.0 (14.6) | 1766 (1072-2908) | Hemochromatosis: 2; lymphoma: 1§;leukemia: 1§; chronic iron overdose: 1 |
| Women | 4 | 75.5 (12.4) | 1489 (1077-2059) | Chronic iron overdose: 4¶ |
Subjects were detected among 609 individuals with confirmed high transferrin saturation and hemochromatosis not previously known, from a population of 65 238 screened individuals.3 Only the HFE mutations C282Y and H63D were studied.
Mean (SD).
Geometric mean (95% CI).
Given without knowledge of HFE genotype.
Unknown HFE genotype.
Including 2 with unknown HFE genotype.