Patient demographics, biochemical, and liver biopsy data for patients homozygous for Cys282Tyr and His63Asp HFE mutations. Two patients homozygous for the His63Asp mutation did not have liver iron concentration assessed
Homozygous | Age (y)/sex | Serum ferritin (ng/ml) | Transferrin saturation (%) | Grade of inflammation (0–18) | Stage of fibrosis (0–6) | Stainable iron hepatocyte (0–4) | Stainable iron macrophage (0–4) | Liver iron concentration (μg/g) | Hepatic iron index |
---|---|---|---|---|---|---|---|---|---|
Cys282Tyr | 22/female | 177 | 108.8 | 4 | 1 | 2.5 | 0.5 | 3240 | 2.52 |
Cys282Tyr | 30/female | 130 | 24.3 | 4 | 1 | 0.5 | 0 | 1250 | 0.75 |
Cys282Tyr | 32/male | 492 | 108.6 | 2 | 1 | 2 | 1 | 1780 | 1 |
His63Asp | 35/female | 6 | 12.5 | 3 | 0 | 0 | 0 | 70 | 0.04 |
His63Asp | 29/male | 323 | 19.7 | 6 | 2 | 0 | 0 | 840 | 0.52 |
His63Asp | 45/male | 93 | 56.1 | 4 | 1 | 0 | 0 | — | — |
His63Asp | 46/male | 213 | 45.6 | 6 | 6 | 0 | 0 | — | — |