Serum-ferritin in diagnosis of haemochromatosis. A study of 43 families

Lancet. 1977 Sep 24;2(8039):621-4. doi: 10.1016/s0140-6736(77)92495-3.

Abstract

242 members of 43 families with idiopathic haemochromatosis were investigated for increased body-iron stores in order to assess the value of serum-ferritin determination as a screening-test to detect preclinical disease. The serum-iron concentration was elevated in only 76% of relatives with increased iron stores, and it was also elevated in 10% of relatives with normal iron stores. The percentage saturation of transferrin was elevated in all relatives with increased iron stores but also in 33% of relatives with normal iron stores. Serum-ferritin was raised in 98% of relatives with increased iron stores and in only 3 (1.8%) of those with normal iron stores. These 3 subjects consumed alcohol in excess of 100 g ethanol per day, and their serum-ferritin levels fluctuated widely. Increased iron stores were reflected in increased serum-ferritin concentrations in subjects as young as 14 years in whom the liver-iron concentration was twice the normal upper limit and before there was any evidence of architectural damage to the liver. The serum-ferritin concentration is a useful non-invasive screening test for precirrhotic haemochromatosis.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aspartate Aminotransferases / blood
  • Binding Sites
  • Child
  • Female
  • Ferritins / blood*
  • Hemochromatosis / blood
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / genetics
  • Humans
  • Iron / metabolism
  • Liver / metabolism
  • Liver / pathology
  • Liver Cirrhosis / prevention & control
  • Male
  • Middle Aged
  • Transferrin / analysis

Substances

  • Transferrin
  • Ferritins
  • Iron
  • Aspartate Aminotransferases