Genetic hemochromatosis

Genetic hemochromatosis is the most common monogenetic metabolic disease in the western world. The homozygous C282Y mutation causes increased intestinal iron absorption. The liver is most severely affected by the iron overload leading via hepatocellular damage to the development of liver fibrosis and cirrhosis with the potential risk of hepatocellular carcinoma. The patients suffer from general symptoms, they often complain about arthropathy and rarely there is also a disposition to diabetes. The diagnosis is based on the determination of serum ferritin levels (>300 ng/ml) and transferrin saturation with iron (>45%) as well as detection of the homozygous C282Y HFE mutation. Liver biopsy and quantitative measurement of tissue iron concentration are only recommended when the genetic test result is negative and very high ferritin levels (>1000 ng/ml) are detectable. The treatment of choice is phlebotomy therapy.