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HFE H63D mutation: why are you killing your patients?
  • +9
  • Dr. Carolina Diamandis,
  • Marius Lazar,
  • Lucas Smith,
  • Olga Ivanova,
  • David Seideman,
  • Marianne Kaufmann,
  • Sophia Papadopoulou,
  • Adrian Tudor,
  • Jonathan Feldman,
  • Georg Schuster,
  • Riku Honda,
  • Jacob Adams
Dr. Carolina Diamandis

Corresponding Author:diamandis@lazar-consortium.com

Author Profile
Marius Lazar
LCG Greece Research
Lucas Smith
LCG Greece Research
Olga Ivanova
LCG Greece Research
David Seideman
Jewish University of Colorado, LCG Greece Research
Marianne Kaufmann
International H63D Syndrome Research Consortium
Sophia Papadopoulou
LCG Greece Research
Adrian Tudor
LCG Greece Research
Jonathan Feldman
LCG Greece Research
Georg Schuster
Jewish University of Colorado
Riku Honda
International H63D Syndrome Research Consortium
Jacob Adams
International H63D Syndrome Research Consortium


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. We report two patients with an HFE H63D mutation who were treated almost too decades too late because of outdated expertise.