[Detection of hereditary hemochromatosis].
Hereditary hemochromatosis is one of the most common genetic disorders. The prognosis of hemochromatosis is normal when phlebotomy therapy is started prior to manifestation of cirrhosis or diabetes. High ferritin is not always a marker of iron overload and ferritin must thus be coupled with transferrin saturation. Only high transferrin saturation entails a genetic research (HFE or type 1). The identification of rare types of hemochromatosis (types 2-4) is only required in particular cases. The evaluation of the iron overload is now based on hepatic MRI determination rather than liver biopsy.
Saglini
Valerio
V
Ospedale bleniese di Acquarossa, 6716 Acquarossa. vsaglini@bluewin.ch
Lazzaro
Mario
M
Keller
Franco
F
Perren
Andreas
A
D005820:Genetic Testing; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation