Hemochromatose: het belang van mutatieonderzoek in de familie

After a 56-year-old man was diagnosed with hereditary haemochromatosis, further tests showed 5 of his relatives to have the same disease. These included the patient’s sister and her husband, who were both homozygous for the C282Y-mutation of the HFE gene, as was their daughter. To the best of our knowledge, this is the first paper to describe an individual with parents who are both homozygous for this mutation. Haemochromatosis is a hereditary disease in which iron uptake in the body is increased to non-physiological levels. This may result in iron overload in a number of organs. Because HFE-related haemochromatosis is a hereditary disease, and an easy treatment may normalise life expectancy, it is important that first-degree relatives of patients are tested for the presence of this mutation.