[Diagnosis of iron overload and hemochromatosis (author's transl)]

During the last years major advances have been achieved in the diagnosis of iron overload and idiopathic hemo-chromatosis (IHC). The mode of inheritance of this disease in known today and early diagnosis can be made by use of new genetic markers; thus, early treatment may prevent irreversible late complications. The diagnostic procedure is discussed, based on 74 own cases with IHC. Diagnosis has to rely on clinical features and laboratory tests. Measurements of serum iron, transferrin saturation and of serum ferritin are most important non invasive diagnostic tests. Our findings confirm that ferritin measurements may be normal in some precirrhotic patients. Measurement of serum iron seems to discriminate most accurately between heterozygous and homozygous relatives. The pathogenesis of IHC still remains unclear in spite of many recent efforts to clarify it. Early diagnosis and phlebotomy have dramatically improved the prognosis of IHC.