Recent Research Links Hereditary Hemochromatosis to Joint Diseases and Cancers

According to a story from, a recent study has a found that a hidden disease called hemochromatosis could be a major risk factor for several different joint diseases and cancers that tend to appear later in life. The prevalence of hemochromatosis in Europeans was recognized to be much more frequent that previously thought.

About Hemochromatosis

Hemochromatosis is medical condition in which there is too much iron in the body. This can be the result of frequent blood transfusions, but there is also a hereditary version which is caused by a genetic mutation. In most cases, the condition is caused by mutations affecting the HFE gene. These mutations cause the intestines to absorb more iron from food than they normally would. Hemochromatosis appears most frequently in people of Northern European descent. The condition may not appear with symptoms for much of the person’s life, but long term iron overload can lead to serious organ damage if untreated. Symptoms include cirrhosis, bone and joint pain, insulin resistance, fatigue, malaise, adrenal insufficiency, erectile dysfunction, deafness, abnormal skin color, and increased vulnerability to infection. Treatment may include phlebotomy (bloodletting), desferrioxamine mesilate, and dietary changes to limit iron intake and absorption. Early diagnosis is essential. To learn more about hemochromatosis, click here.

Research Findings

The study reveals that as many as one in five men and about one in ten women carry at least one copy of the mutated gene in the US and UK; however, a person most possess two copies in order to get the disease, which is heritable in an autosomal recessive pattern. Nicknamed the “Celtic curse”, there are about 250,000 people in the UK that are affected. The researchers found that as many as 1.6 percent of hip replacement surgeries and 5.8 percent of cases of liver cancer could be linked to hemochromatosis.

The researchers used data from 2,890 patients with the condition from the UK. Hemochromatosis was found to double a person’s risk of arthritis and quadruple their risk of liver disease. Since the signs and symptoms of the condition can easily be attributed to other health problems, it is likely that hemochromatosis is substantially under-diagnosed. 

The original study was published in the academic journal BMJ and can be found here.

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