Fact Sheet : Hemochromatosis
Hereditary hemochromatosis is a disease caused by a recessive genetic mutation that makes the body absorb too much iron, resulting in excess amounts being deposited in vital organs, most commonly the liver, heart, and pancreas. Luckily, only a small number of people with the genetic mutation develop serious problems, but even so, excess iron can poison those organs, effectively “rusting” them, resulting in cancer, heart disease, diabetes, cirrhosis, and other life-threatening diseases.
Since the discovery of the mutation in 1996, hemochromatosis has been called the “Celtic Curse,” “Irish Illness,” “Scottish Sickness,” and the “British Gene” for good reasons. Research suggests that the mutation occurred in Ireland to conserve iron in the bodies of the Celts who lacked an iron-rich diet. Now that we have iron-heavy foods readily accessible, the evolutionary development has become a disease that disproportionately afflicts people with Irish, Scottish, Welsh, and British heritage, who are three times more likely to suffer from hemochromatosis.
Because it is caused by a recessive gene, hemochromatosis will only occur if both parents pass on the mutated gene. People with only one mutated gene are carriers. Among the Irish, estimates suggest that one in four are carriers. And of the roughly 34.7 million Irish Americans, about 5.6 million are carriers. Organizations like the American Hemochro-matosis Society and the Irish Haemochromatosis Association are pushing for greater awareness and testing of the disease, especially for people with Celtic ancestry.
• Family History: If you have a family history of hemochromatosis, you are more likely to have inherited the gene that causes it. You can ask your doctor about genetic tests to determine if you carry the gene mutation.
• Ethnicity: People of Northern European descent are at the greatest risk of inheriting the disease, while people of African, Asian, and Hispanic origins are much less commonly carriers of the mutated gene.
• Gender and Age: Males show signs of the disease earlier than females, leading to increased complications from its development. Because menstruation and pregnancy naturally expel iron, women are at a lesser risk of early symptoms, though after menopause the risk factor increases significantly.
Most times, signs and symptoms don’t appear until middle age—between 50 and 60 in men, and after 60 in women—and some people with hereditary hemochromatosis never exhibit signs of the disease. Unfortunately, early indicator symptoms are vague and can often
be confused with those
of other diseases. They include:
• Joint Pain
In most men with hereditary hemochromatosis, the first signs of the disease are usually from organ damage. They include:
• Joint Pain
• Diminished Libido and/or Impotence
• Heart Failure
Standard treatment involves removal of blood from the body to reduce iron to normal levels in two stages. The initial treatment schedule usually consists of taking out about a pint of blood once a week for anywhere from a few months to several years, however long it takes to drop iron levels to normal. Once that has been achieved, a maintenance schedule begins, with draws usually occurring once every several months. If, however, phlebotomy is not an option (if you have anemia or heart conditions for example), medication that causes the body to expel excess iron through urine or stool can be prescribed by a doctor.
Homeopathic lifestyle options exist, but ideally should be done in conjunction with medical treatment. They include:
• Avoiding vitamin supplements with iron
• Avoiding vitamin C supplements, which increase the body’s rate of absorption of iron
• Avoiding alcohol, which increases the risk of liver damage on top of the risk of iron poisoning
• Avoiding raw shellfish because shellfish contain bacteria that people with hereditary hemochromatosis are more susceptible to get infected by
• Drinking tannin-rich tea, which is thought to slow iron absorption
Once treatment has begun, the majority of patients see a reduction in primary symptoms and even the abatement or full-on reversal of secondary diseases caused by hereditary hemochromatosis like liver disease, heart disease, or diabetes.
Read more about the potential link between hemochromatosis and the famine in Thomas P. Duffy’s article: The Great Hunger and the Celtic Gene
Correction: A previous version of this article erroneously states that the hemochromatosis mutation first occurred in Ireland 40,000 years ago.