Hereditary haemochromatosis (HH) is a disease characterised by excessive absorbance and storage of iron in the body, which results from a mutation in HFE, a gene involved in iron regulation. In addition, HH patients have an abnormal immune system (IS), and it has been suggested that the IS is also involved in HH iron deregulation. And now, research by a team of Portuguese scientists about to be published on the 1st of August issue of the journal Blood, shows, that the HFE gene seems to be involved, not only in iron regulation, but also in the immune response. The discovery not only helps to understand better the mechanism behind the disease, but proves, for the first time, the existence of a molecular link between iron homeostasis and the IS, suggesting what a few scientists have proposed before - that the IS might be involved in more functions in the body beside the fight against infection.
Hereditary hemochromatosis is the most common genetic illness among people of North European ancestry where it affects as many as 1 in 200-300 individuals. The disease results in excessive storage of iron in the body tissues leading to damage, and if not treated, organ failure and even death. Symptoms vary from mild to life-threatening heart and liver disease, arthritis or even diabetes mellitus depending on the damaged organ.
An interesting characteristic of the disease is that individuals with the same HFE mutations can, nevertheless, present a large range of disease severities, what shows that other factors, beside HFE, seem to be involved in disease outcome. And in fact HH patients are also immuno-suppressed presenting, among other problems, low numbers of specific subsets of white blood cell, the IS “responders” against intruders. Research seems to indicate that these immunological problems are involved, together with the mutated HFE gene, in the excessive absorbance and storage of iron observed in HH although the reason behind such deficiencies is unknown
Catarina Amorim | alfa
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