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Gut 41:841-844 doi:10.1136/gut.41.6.841
  • Liver

A simple genetic test identifies 90% of UK patients with haemochromatosis

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)
1 HH/CC No (adopted) 24 14 31/33 94 3350
2 HH/CC Yes 163-150 10 Fibrosis/4 42/44 95 2082
3 HH/CC No 60 7 Fibosis/2 (HII-5.6) 37.6/44.9 84 1350
4 HH/CC No 55 NA3-151 Cirrhosis NA 80 595
5 HH/CC No 54 5 Fibrosis/3 40/54 74 1400
6 DD/CC No 36 > 10 Cirrhosis/heavy siderosis 60/65 92 7000
  • 3-150 Diagnosed at age 16 during family screening.

  • 3-151 Died shortly after diagnosis.

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