Article
A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology.
Genetic testing - 1 Jan 2000
Restagno G, Gomez A M, Sbaiz L, De Gobbi M, Roetto A, Bertino E, Fabris C, Fiorucci G C, Fortina P, Camaschella C
Abstract excerpt
Hereditary hemochromatosis (HH) is a disorder of iron metabolism that leads to iron overload in middle age and can be caused by homozygosity for the C282Y mutation in the HFE gene. Preliminary studies have estimated the frequency of this mutation at 0.5-1% in Italy, but this has not been verified on a large sample. We analyzed 1,331 Italian newborns for the C282Y mutation in the HFE gene using dried blood spots...
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