Did you know DNA changes cause hemochromatosis?

1 in 9 people of European ancestry carry one of the hemochromatosis genetic mutations

Long ago, the Irish Celts worried about “fairies” replacing their children with changelings. These changelings suffered from unexplained diseases. The most common of them was “having too much iron in the blood,” diagnosed when a child cringed away from an iron bar.

The story might be folklore, but the disease is real. Hereditary hemochromatosis is a disease that often affects people who are Northern European or of Viking-descent.

What Is Hemochromatosis?

Hemochromatosis is a condition where the body absorbs and stores too much iron. It is one of the most common genetic disorders in the US. But, many of us have never heard of it.

Chronic fatigue, joint pain and heart problems are among the initial symptoms of hemochromatosis. Unfortunately because these symptoms resemble many other conditions, hemochromatosis is often under-diagnosed.

Advanced symptoms of hemochromatosis include arthritis, diabetes, heart disease and liver failure. Even these devastating symptoms can be misdiagnosed and the underlying cause (excess iron) is often missed.

The HFE Gene

The leading cause of hereditary hemochromatosis are defective versions of a single gene, HFE. The HFE protein controls how much iron gets absorbed from food.

People with defective HFE absorb three times more iron than normal. Since humans are unable to dispose of any extra iron, it accumulates in organs, causing organ damage or literally “rust” over time.

A Founder Mutation

One of the genetic changes that causes hemochromatosis likely occurred in a common ancestor or a ‘founder’ shared by Northern Europeans of Viking descent. This change was then passed onto the descendants of this affected person.

This “founder affect” explains why 80-90% of people with hemochromatosis carry the exact same HFE genetic mutation. On the plus side, these genetic changes are useful for easily diagnosing the risk of hemochromatosis.

This is good news to the 33 million Americans, who are either silent carriers (have one defective copy), or have two defective HFE genes, and are at a high risk of developing hemochromatosis.

In The Spotlight

Hemochromatosis finally received much-needed awareness in 2009 when a researcher working on the “Black Plague” bacteria died from the plague.

Malcolm Casadaban was working with a variant strain of the “Black Plague” bacteria that was thought to be harmless, since it needed iron to survive. But, Casadaban had undiagnosed hemochromatosis and his high iron levels made him vulnerable to even this weakened form of Yersinia pestis bacteria.

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Are You At Risk?

Hemochromatosis is a silent killer, because it is regularly undiagnosed or diagnosed after the extensive organ damage has already occurred. If diagnosed early, hemochromatosis can be easily treated and managed through phlebotomy (removing blood at regular intervals) and dietary changes.

Does your Viking ancestry put you at risk of “the Celtic Curse?” Find out if you are at risk with the DNA Hemochromatosis Test.

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