Table 2

 Clinical details of patients not carrying the C282Y mutation

Patient Genotype Known family history Age at onset of symptoms (y) Iron removed by initial venesection/desferrioxamine (g) Liver histology/grade of siderosis Serum Fe/TIBC (μmol/l) Transferrin saturation (%) Serum ferritin (μg/l)
1HH/CCNo (adopted)241431/33943350
2HH/CCYes163-150 10Fibrosis/442/44952082
3HH/CCNo607Fibosis/2 (HII-5.6)37.6/44.9841350
4HH/CCNo55NA3-151 CirrhosisNA80595
5HH/CCNo545Fibrosis/340/54741400
6DD/CCNo36> 10Cirrhosis/heavy siderosis60/65927000
  • 3-150 Diagnosed at age 16 during family screening.

  • 3-151 Died shortly after diagnosis.