Influence of HFE genotype on the iron phenotype in PCT patients
| Genotype . | Male/Female . | Serum Iron (μmol/L) . | Transferrin Saturation (%) . | Serum Ferritin (μg/L) . | HPCSI . | HIC (μmol/g) . |
|---|---|---|---|---|---|---|
| Cys282Tyr/Cys282Tyr | 11/8 | 37.6 ± 4.1 | 73 ± 5 | 810 ± 140 | 2.6 ± 0.2 | 68 ± 12 |
| n = 19 | (851) | |||||
| Cys282Tyr/WT | 9/3 | 23.1 ± 2.9 | 40 ± 5 | 449 ± 86 | 1.8 ± 0.2 | 21 ± 4 |
| n = 12 | (452) | |||||
| Cys282Tyr/His63Asp | 2/2 | 27.4 ± 1.8 | 52 ± 2 | 264 ± 160 | 2.0 ± 0.6 | 24 ± 13 |
| n = 4 | (170) | |||||
| His63Asp/His63Asp | 2/4 | 26.0 ± 4.3 | 48 ± 7 | 263 ± 67 | 1.8 ± 0.3 | 17 ± 7 |
| n = 6 | (279) | |||||
| His63Asp/WT | 8/4 | 23.0 ± 2.9 | 38 ± 6 | 414 ± 72 | 1.9 ± 0.3 | 40 ± 9 |
| n = 12 | (426) | |||||
| WT/WT | 20/8 | 21.3 ± 2.1 | 39 ± 4 | 447 ± 92 | 1.8 ± 0.2 | 25 ± 6 |
| n = 28 | (334) | |||||
| Control | 65/34 | 18.4 ± 0.7 | 29 ± 1 | 75 ± 6 | ||
| n = 99 | (57) |
| Genotype . | Male/Female . | Serum Iron (μmol/L) . | Transferrin Saturation (%) . | Serum Ferritin (μg/L) . | HPCSI . | HIC (μmol/g) . |
|---|---|---|---|---|---|---|
| Cys282Tyr/Cys282Tyr | 11/8 | 37.6 ± 4.1 | 73 ± 5 | 810 ± 140 | 2.6 ± 0.2 | 68 ± 12 |
| n = 19 | (851) | |||||
| Cys282Tyr/WT | 9/3 | 23.1 ± 2.9 | 40 ± 5 | 449 ± 86 | 1.8 ± 0.2 | 21 ± 4 |
| n = 12 | (452) | |||||
| Cys282Tyr/His63Asp | 2/2 | 27.4 ± 1.8 | 52 ± 2 | 264 ± 160 | 2.0 ± 0.6 | 24 ± 13 |
| n = 4 | (170) | |||||
| His63Asp/His63Asp | 2/4 | 26.0 ± 4.3 | 48 ± 7 | 263 ± 67 | 1.8 ± 0.3 | 17 ± 7 |
| n = 6 | (279) | |||||
| His63Asp/WT | 8/4 | 23.0 ± 2.9 | 38 ± 6 | 414 ± 72 | 1.9 ± 0.3 | 40 ± 9 |
| n = 12 | (426) | |||||
| WT/WT | 20/8 | 21.3 ± 2.1 | 39 ± 4 | 447 ± 92 | 1.8 ± 0.2 | 25 ± 6 |
| n = 28 | (334) | |||||
| Control | 65/34 | 18.4 ± 0.7 | 29 ± 1 | 75 ± 6 | ||
| n = 99 | (57) |
Normal HPCSI values are 0-1.25 Normal HIC values are <25 μmol/g dry weight.19 Data were derived from 81 genotyped patients who had not been treated by phlebotomy prior to evaluation. Values are the mean ± SEM, and median values are shown in parenthesis. Mean values for transferrin saturation, serum ferritin, and HIC for the Cys282Tyr/Cys282Tyr genotype were higher than values for all other genotypes (P = .0001, .0096, and .0004, respectively). The controls are members of hemochromatosis pedigrees sharing no HLA alloantigen with the proband. They were matched by sex and age with PCT patients.19