Hemochromatosis – a current review

Overview

The article reviews the current definition, diagnosis and treatment of hereditary hemochromatosis. The screening examination includes transferrin saturation and serum ferritin. It is indicated in patients with cryptogenic liver disease, arthropathy, diabetes mellitus or impairment of glucose tolerance, unclear arrhythmia or cardiomyopathy. Genetic examination offers final confirmation of the disease. Treatment with venepunction is simple and most effective. Early diagnosis and treatment allows the patient a normal life expectancy.

Key words:
hemochromatosis, ferritin, transferrin saturation, iron, diagnosis, treatment.