Abstract

Evidence-based medicine has shown for many years that homozygous mutations of the HFE gene H63D are by no means negligible. Not only can it cause, usually after a second hit, rather mild classical hemochromatosis, but it can also cause numerous other disorders of iron metabolism, such as hypotransferrinemia, changes in binding capacity, and others. In addition, it may lead-among other symptoms-to damages of the heart and the substantia nigra via a causal relationship that remains to be investigated, most likely via a cascade dysfunction in iron metabolism. The clinical facts are compelling. Any physician who dismisses mutations of the HFE gene H63D as clinically irrelevant risks the health and life of his patient. Therefore all main researcher working on H63D Syndrome decided to raise awareness for the "iron brother" of Morbus Wilson by renaming H63D Syndrome.