Diagnostik und Therapie der hereditären Hämochromatose
G von Figura, H Kulaksiz · DMW - Deutsche Medizinische Wochenschrift · 2009 · Heft 50 · S. 2565-2572
Bibliografische Angaben
Zusammenfassung
Abstract Hereditary hemochromatosis is one of the commonest inherited diseases. The underlying genetic defects lead to an accumulation of iron and subsequent damaging in various organs, especially in the liver. About 14 years ago a genetic test was introduced in Germany that detects hereditary forms of hemochromatosis with a high sensitivity and specificity. This test allows to diagnose hemochromatosis even before end-organ damage is present. The aim is to identify hemochromatosis patients at early disease stages to start a therapy, since an early diagnosis and treatment results in a normal life expectancy. In t…