Hereditary hemochromatosis. Diagnosis in siblings and children

N Engl J Med. 1977 Jul 7;297(1):7-13. doi: 10.1056/NEJM197707072970102.


We studied five patients with clinically manifest hemochromatosis and 19 of their siblings and children to define better the diagnostic criteria for stages of the disease. The earliest detectable abnormalities were an increase in hepatic-parenchymal-cell stainable iron, hepatic iron concentration, transferrin saturation and serum iron concentration. In contrast, urinary iron excretion after deferoxamine and serum ferritin concentration were usually normal in early iron loading. In either latent or clinically manifest disease, hepatic-parenchymal-cell stainable iron was Grade 3 or 4; hepatic iron concentration was greater than 250 microng per 100 mg; serum iron was greater than 170 microng per 100 ml; transferrin saturation was greater than 70 per cent; urinary iron excretion exceeded 2.2 mg per 24 hours; and serum ferritin usually exceeded 1000 ng per ml. Estimation of liver iron is the most sensitive method for detecting early disease. Urinary iron excretion and serum ferritin estimate the total body burden of iron in latent and clinically manifest disease.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Deferoxamine / administration & dosage
  • Female
  • Ferritins / blood
  • Hemochromatosis / diagnosis
  • Hemochromatosis / genetics*
  • Humans
  • Iron / analysis*
  • Iron / blood
  • Iron / urine
  • Liver / analysis*
  • Male
  • Middle Aged
  • Sex Factors
  • Transferrin / metabolism


  • Transferrin
  • Ferritins
  • Iron
  • Deferoxamine