Background-In a previously described model, heterozygotes for an African iron loading locus develop iron overload only when dietary iron is high, but homozygotes may do so with normal dietary iron.
If an iron loading gene is common, then homozygotes with iron overload will be found even in an urban population where traditional beer, the source of iron, is uncommon.
Aims-To determine whether iron overload and the C282Y mutation characteristic of hereditary haemochromatosis are readily identifiable in an urban African population.
Methods-Histological assessment, hepatocellular iron grading, and dry weight non-haem iron concentration were determined in post mortem tissue from liver, spleen, heart, lungs, and skin.
DNA of subjects with elevated hepatic iron indexes was analysed for the C282Y mutation.
Iron concentrations in other tissues were compared.
A moderate increase (>30 mumol/g) in hepatic iron concentrations was found in 31 subjects (23% ; 95% confidence interval 15.9 to 30.1%), and they were considerably elevated (>180 mumol/g) in seven subjects (5.2% ; 95% confidence interval 1.5 to 8.9%). Appreciably elevated hepatic iron concentrations were associated with heavy iron deposition in both hepatocytes and macrophages, and either portal fibrosis or cirrhosis.
All were negative for the C282Y mutation.
Very high concentrations were uncommon in subjects dying in hospital. (...)
Mots-clés Pascal : Hémosidérose, Cirrhose, Hémochromatose, Mécanisme action, Surcharge, Prédisposition, Epidémiologie, Homme, Fer, Métabolisme pathologie, Appareil digestif pathologie, Foie pathologie, Enzymopathie, Maladie héréditaire, Génétique
Mots-clés Pascal anglais : Hemosiderosis, Cirrhosis, Hemochromatosis, Mechanism of action, Overload, Predisposition, Epidemiology, Human, Iron, Metabolic diseases, Digestive diseases, Hepatic disease, Enzymopathy, Genetic disease, Genetics
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0404374
Code Inist : 002B30A01C. Création : 22/03/2000.