Table 3 Iron status and HFE genotype of first degree relatives of C282Y homozygous probands.
| Genotype (C282Y/H63D) | Proband group | Age (y)† | Sex ratio (F:M) | sFe (μmol/l) | TIBC (μmol/l) | TS (%) | sFn† (μg/l) |
|---|---|---|---|---|---|---|---|
| −−/−− | S | 39 (16–73) | 9:13 | 16 (9) | 62 (8) | 27 (15) | 57 (4–381) |
| C | 57 (39–80) | 9:8 | 12 (7) | 59 (8) | 21 (12) | 79 (26–175) | |
| −−/+− | S | 50 (35–69)* | 6:4 | 16 (9) | 62 (6) | 26 (14) | 46 (6–1368) |
| C | 46 (38–68)* | 5:5 | 15 (6) | 61 (7) | 25 (10) | 47 (10–396) | |
| −−/++ | S | 41 (39–42) | 1:1 | 13 (5) | 57 (5) | 25 (11) | 40 (22–57) |
| +−/−− | S | 57 (17–89)**** | 45:43 | 16 (7) | 59 (8) | 27 (11) | 64 (5–451) |
| C | 65 (35–88) | 32:13 | 15 (9) | 59 (6) | 26 (15) | 67 (6–714) | |
| +−/+− | S | 68 (43–82)**** | 7:7 | 21 (8) | 58 (8) | 36 (13) | 138 (6–490)* |
| C | 60 (28–76) | 7:8 | 19 (10)* | 59 (6) | 34 (18)* | 106 (11–723) | |
| ++/−− | S | 50 (14–73) | 15:10 | 24 (11)* | 50(5)**** | 51 (27)*** | 251 (6–2607)** |
| C | 53 (20–86) | 19:15 | 29 (11)**** | 50 (8)**** | 61 (24)**** | 427 (12–4000)**** |
Proband group: S, screened, C, clinical presentation.
sFe, serum iron concentration; TIBC, total iron binding capacity; TS, transferrin saturation; sFn, serum ferritin concentration.
Measurements are given as mean (SD) and †median (range).
Comparisons of iron parameters were made between individual genotypes and wild‐type genotype (−−/−−): *p⩽0.05, **p⩽0.01, ***p⩽0.001, ****p⩽0.0001.