Common Genetic Disorder Associated With Cancer, Other Conditions

Hereditary hemochromatosis is a genetic condition that leads to a toxic build-up of iron in the body and is one of the most common genetic disorders in the western world. This mutation was originally thought to be a low-level health risk; however, research published in The BMJ found that hereditary hemochromatosis is associated with higher levels of cancer and other chronic health conditions.

Researchers conducted a cohort study to evaluate prevalent and incident morbidity and mortality associated with hereditary hemochromatosis in 451,243 volunteers of European descent aged 40 to 70 years who were identified from 22 centers across England, Scotland, and Wales via the UK Biobank between 2006 and 2010.

Among this cohort, 2,890 people had the mutations, and the condition caused 5.8% of liver cancers. It quadrupled the risk of liver disease (odds ratio = 4.30; 95% CI, 2.97-6.18; P<0.001), including liver cancer and liver cirrhosis. Fourteen people in the study died from liver cancer.

In addition, one in five men and one in 10 women developed additional diseases, such as diabetes or rheumatoid arthritis compared with those who did not have the genetic disorder. During 7 years of follow-up, 15.7% of homozygous men developed at least one incident-associated condition compared with 5.0% of men without the mutations (P<0.001). In women, 10.1% with hereditary hemochromatosis developed an incident-associated condition compared with 3.4% without the mutation (P<0.001).

The researchers found that routine screening for this condition, including genetic testing and blood tests for iron, was cost-effective and accurate.

The disorder is most common among people of European descent, according to CNN.

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Source: The BMJ