Table 1:
Normal TS and elevated SF in 58 referred HFE p.C282Y homozygotes with normal TS and elevated SF
| Gender | Normal TS and elevated SF, n (%)* | SF, µg/L, M (range) | TS, %, M (range) | Age at diagnosis, y, M (range) | Iron removed, g, M (range), n | Patients with iron removed ≥3 g,† n (%) | Hepatic iron, µmol/g,‡ M (range), n | Cirrhosis, n |
|---|---|---|---|---|---|---|---|---|
| Men | 33 (6.3) | 1,079 (439–5,844) | 39 (31–49) | 50 (19–74) | 7.1 (1.5–26), 20 | 15/20 (75) | 257 (89–663), 6 | 2 |
| Women | 25 (6.4) | 372 (202–793) | 36 (13–43) | 52 (29–77) | 2.5 (0.5–3.5), 8 | 5/8 (63) | 52 (29, 76), 2 | 1 |
*Normal TS: <50% for men, <45% for women. Elevated ferritin: >300 µg/L for men, >200 µg/L for women. These 58 patients represented 6.3% of 917 referred HFE p.C282Y homozygotes (527 men, 390 women).
† Iron overload was defined as ≥3 g iron removed by phlebotomy to achieve iron depletion.
‡ Reference range for liver iron is 0–35 µmol/g dry weight. Liver iron was >35 µmol/g dry weight in 7 of 8 patients so tested (87.5%).
TS = transferrin saturation; SF = serum ferritin; HFE = high-iron gene