Serum-ferritin in diagnosis of haemochromatosis
Leyland, M.J.; Brown, P.J.; Walker, R.J.; Bomford, A.; Williams, R.
Lancet 2(8046): 1030-1031
1977
ISSN/ISBN: 0140-6736 PMID: 72928 Document Number: 110983
The 242 members of 43 families with idiopathic haemochromatosis were examined for increase in body iron stores to assess the value of serum ferritin estimation as a screening test to detect preclinical disease. The serum iron concentration was high in only 76% of relatives with increased iron stores and it was also high in 10% of relatives with normal iron stores. The percentage saturation of transferrin was high 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 drank in excess of 100 g ethanol daily; their serum ferritin 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 noninvasive screening test for precirrhotic haemochromatosis.