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Did you know DNA changes cause hemochromatosis?

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

Long ago, Irish Celts worried about “fairies” replacing their children with changelings or fairy children who suffered from unexplained diseases. “Having too much iron in the blood” was the most common of these diseases, and it was apparently diagnosed when a child cringed away from an iron bar. This might be folklore, but the disease is real. Hereditary hemochromatosis is a disease that affects individuals of Northern European or Viking-descent. 

Hemochromatosis occurs when the body absorbs and stores too much iron. It is one of the most common genetic disorders in the US, yet many of us have never heard of it. Chronic fatigue, joint pain and heart problems are among the initial symptoms of hemochromatosis. Unfortunately these symptoms resemble many other conditions, contributing to the poor diagnostic rate for hemochromatosis. Arthritis, diabetes, heart disease and liver failure can all be advanced symptoms of hemochromatosis, yet even these devastating symptoms can be misdiagnosed and the underlying cause (excess iron) is missed.

Defective versions of a single gene, HFE, are the leading cause of hereditary hemochromatosis. The HFE protein controls how much iron gets absorbed from food. Individuals with defective HFE absorb and store three times more iron than normal. Humans are unable to dispose of any extra iron, and it accumulates in organs, causing the organs to be damaged or literally “rust” over time.

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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 genetic change was then passed onto the descendants of this affected individual. This “founder affect” explains why 80-90% of people with hemochromatosis carry the exact same HFE genetic mutation. Hemochromatosis risk can be easily diagnosed based on genetic changes. This is good news to the 33 million Americans, who are either silent carriers, or have two defective HFE genes and are at a high risk of developing hemochromatosis.

The unexpected death of Malcolm Casadaban in 2009 brought much-needed awareness to hemochromatosis. Casadaban was a researcher working with a variant strain of the “Black Plague” bacteria that was thought to be harmless, since it needed iron to survive. Unknown to him, Casadaban had hemochromatosis and his high iron levels made him vulnerable to even this weakened form of Yersinia pestis bacteria.

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. However, if left undiagnosed or diagnosed too late, hemochromatosis truly becomes “the Celtic curse”. 

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