Table 2

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

HomozygousAge (y)/sexSerum 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
Cys282Tyr22/female177108.8412.50.532402.52
Cys282Tyr30/female13024.3410.5012500.75
Cys282Tyr32/male492108.6212117801
His63Asp35/female612.53000 700.04
His63Asp29/male32319.76200 8400.52
His63Asp45/male9356.14100
His63Asp46/male21345.66600