Table 3

Clinical and biological data on 12 H63D homozygotes with a phenotype of hereditary haemochromatosis (HH)

Liver biopsyBody iron removed
Patient NoSexAge3-150 (y)Family historyTransferrin saturation (%)Serum ferritin (μg/l)HIIFibrosisCirrhosisHCCAmount (g)Duration (months)
 1F35HH, HCC93  99111.03YesNo 6.9 33
 2F48No75 4816 6.4YesYes11.4 63
 3M39No68 1000ndndnd10 66
 4M40No72 1498 2.4NoNo 1.8 16
 5M43HH47  987 1.47NoNo27198
 6M47No50  886ndNoNo12.6102
 7M54HH51 1270 2.69YesNo 3 24
 8M55HH47  645 2.24NoNo 2.7 16
 9M63No63 1320ndYesNo 9 49
10M65HC61.5 1410 4.06YesYesYes 0  0
11M75No95 2220 2.57NoNo 2.4 10
12M77No49 1220 2.12YesYesYes 0.2  0.5
Mean53.464.2 1522 7.3
(SD)(14)(17)(1100)(7.6)
  • HH, hereditary haemochromatosis; HCC, hepatocarcinoma; HII, hepatic iron index; nd, not determined.

  • Normal range: transferrin saturation 23–43%; serum ferritin: men 40–300 μg/l, women 30–185 μg/l.

  • 3-150 Age at diagnosis.