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Training & Education - Pathophysiology


graphic of iron processing in body

Assessment of patients with vague, non-specific symptoms (e.g., fatigue, weakness, and arthralgia) presents a challenge to the primary care professional. A possible underlying cause, iron overload, is often missed.

Early detection of iron overload and hemochromatosis treatment can delay or prevent irreversible complications and prolong life.

"Following discovery of the hereditary hemochromatosis gene known as HFE, the significance of genes in hemochromatosis was overstated by researchers and advocacy groups alike. Witness the claim: “hemochromatosis is the most common genetic disease known…” Actually, hemochromatosis is not the most common genetic disease known; rather it is a disease that illustrates the limitations of genetic testing. For example, the HFE genetic test is unlikely to be cost effective for large scale screening for hemochromatosis. Genetic testing should not distract people from the fundamental principle that hemochromatosis is about iron."

David G. Brooks, MD, PhD
Division of Medical Genetics
Department of Medicine
University of Pennsylvania

Content in this module includes:

  • Iron overload and its relation to hemochromatosis.
  • HFE gene mutations affect on iron absorption.
  • Hereditary hemochromatosis.