Distribution of the HFE gene C282Y mutation among 1900 hospitalised Caucasian patients. Median (range) values for serum ferritin and transferrin saturation at admission are shown. Only genotypes C282Y +/− and +/+ were tested for the H63D mutation. None of the 127 non-Caucasian patients had the C282Y mutation
| Genotypes | ||||
|---|---|---|---|---|
| C282Y | H63D | No (%) (n=1900) | Serum ferritin (μg/l) | Transferrin saturation (%) |
| −/− | 1662 (87.0) | 121 (2–28620) | 15 (1–90) | |
| +/− | −/− | 192 (10.1) | 151 (3–4453)1-151 | 17 (2–92)1-151 |
| +/− | +/− | 32 (1.7) | 99 (14–1275)1-152 | 21 (4–76)1-152 |
| +/+ | −/− | 14 (0.74) | 370 (29–2203)1-150 | 27 (3–51)1-150 |
↵1-150 C282Y homozygotes had significantly higher serum ferritin and transferrin saturation with respect to wild-type patients (p=0.01 and p=0.02, respectively). Iron indexes from one homozygous patient who had received treatment were excluded from the calculations. C282Y homozygotes also had significantly higher serum ferritin than C282Y heterozygotes (p=0.03) but there was no significant difference in transferrin saturation (p=0.08).
↵1-151 All C282Y heterozygotes (n=224) had significantly higher serum ferritin concentrations and transferrin saturation with respect to wild-type patients (p=0.02 and p=0.02, respectively).
↵1-152 There were no significant differences in serum ferritin and transferrin saturation between C282Y heterozygotes and compound heterozygotes (p=0.14 and p=0.40, respectively).