Article
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.
Haematologica - 1 Aug 2006
Majore S, Milano F, Binni F, Stuppia L, Cerrone A, Tafuri A, De Bernardo C, Palka G, Grammatico P
Abstract excerpt
The p.M172K TFR2 mutation was identified in two Italian siblings aged 32 and 40 years old with primary iron overload. The two patients showed a severe increase in serum iron indices. From the age of 25, the male sib also revealed abnormal levels of hepatic enzymes, presumably in relation to iron induced liver damage. Clinical findings seem to evidence that type 3 hemochromatosis can be more serious than classic...
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