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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.
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| "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." |
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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.
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