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Hereditary hemochromatosis is caused by defects in a gene called HFE. DNA testing can confirm the presence of the three mutations which are known to cause hemochromatosis: C282Y, H63D and S65C. DNA testing can be done to find out if your family may be at risk.
A confidential HFE genetic testing using buccal (mouth) swab collection is available through Genetrack Biolabs at www.hemochromatosisdna.com.
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This page is also available as a printable PDF: Symptoms
In spite of being the most common genetic disorder among persons of Northern European descent, hemochromatosis remains relatively unknown. Until recently, physicians were taught that HHC was extremely rare, so symptoms were attributed to other causes. Many early symptoms go unnoticed so individuals with hemochromatosis go undiagnosed until irreversible damage has occurred. Even post mortem, hemochromatosis is often overlooked as a possible cause of death. That is why hereditary hemochromatosis has been called "the silent killer".
Symptoms of HHC do not necessarily appear in a particular order, and importantly, not all hemochromatosis sufferers will have every symptom. The following symptoms have been associated with hemochromatosis, and any combination of two or more should prompt further investigation:
Without any kind of intervention, damage to organs from too much iron can eventually result in life threatening significant diseases, such as:
Diagnosing the disorder before symptoms occur, while still in the early stages before irreversible damage is done, is extremely important. Many complications can be treated or prevented, but early diagnosis and therapy is the key.