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Ultime notizie dal mondo della genetica


Hemochromatosis: a very dangerous silent disease

Hemochromatosis is the most widespread genetic disease in the western world. They call it the "silent disease", yet it could be much more dangerous than previously thought. According to two high-level studies, the pathology would raise the risk of contracting other dangerous diseases and even disability. The first study comes from a team at the University of Exeter in the United Kingdom; the second comes from the University of Connecticut, in the United States. The two groups cooperated, arriving at the above conclusions.

Those suffering from hemochromatosis absorb too much iron and accumulate it in the body. Over time, excess iron damages the organs and can cause further diseases. It is estimated that about 1 million Americans suffer from the hereditary form of the disease. The authors of the study suggest creating routine screening for people at risk. Blood tests and genetic tests could in fact save the lives of many people.

Hereditary hemochromatosis was thought to be relatively harmless. Professor David Melzer states that this is not the case. The team examined data from 2,890 British patients with HFE and C282Y genetic mutations. In the group the incidence of further diseases was 1 in 5 in men and 1 in 10 in women, higher than in those who did not have mutations.

These people, all aged between 65 and 70, were more susceptible to chronic frailty and pain. During the study, 14 of them died of liver cancer. An additional study showed that 9% of patients with the two mutations became seriously ill with liver cancer. Yet the diagnoses are often late, leaving no time for preventive therapies. In many cases, little would be enough to significantly reduce the incidence of further fatal diseases.

Source: exeter.ac.uk

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