Our body is an extremely complex “machine”, for whose operation they are Fundamental adequate levels of different chemical elements: conditions such as theiron deficiency anemia (Sideropenic anemia) are relatively common and therefore known. If the lack of nutrients is a problem, however, also a excessive accumulation can cause problems: this is the case for example of theemocromatosiscondition hereditary which can lead to high levels of iron in our body, with also serious consequences. This disease, relatively widespread in North European countries, in Italy to a prevalence (quantity of subjects affected in the population) decidedly higher in the regions northern and symptoms They are more evident in men and women in menopause. Fortunately, modern medicine is able to highlight the causes And help patients keep their condition under control, through frequent blood samples or specific drugs that help eliminate excess iron from the body.
Disclaimer: The following information is only for the purpose information: For insights it is essential to contact your doctor, who will be able to evaluate the general framework and any necessary exams.
Who is striking and what is the bloodocromatosis from?
The bloodocromatosis is one Hereditary genetic diseasevariously widespread among European populations, especially in areas inhabited by Celtic populations Thousands of years ago: 1 person out of 100 in Ireland are affected by the disease and 1 out of 400 in France. In Italy, the prevalence is equally varied: from 1 case on 500 in the Northuntil Less than 1 case in 2000 in the South Italy.
The disease is caused by genetic mutations: of the 5 types recorded today, the most widespread is that “type 1” of the HFE gene, responsible for80% of Italian cases. The mutations, with the exception of type 5, are transmitted in a manner “autosomal recessive”That is, it is manifested only when both the mutation is present on both chromosomes. Therefore, those who have only one gender changed it is a healthy bearer of the disease, but two healthy carriers have 25% probability to have a son who inherits Two copies of genes changed (one from each parent) and therefore struck by the disease.
Despite this, for reasons still to be ascertained, for reasons still to be ascertained, Just a part of subjects with mutation with homozygous (i.e. with 2 copies of changed genes) It develops evident symptoms from hemocromatosis; At the same time, a percentage of individuals with heterozygosis (mutation of the gene present on a single chromosome) can develop its symptoms.
The symptoms of hemocromatosis and diagnoses
The consequences of the iron accumulation are manifested, in most cases, in adulthood and are more evident in the male population and in menopause women. The symptoms are different, from a generic chronic fatigue And depressive symptoms up to pain in the joints; On the clinical level there are damage to organs such as liver and heart.
The diagnosis is carried out only by the attending physician after viewing the blood analysis: subjects affected by the disease have High levels of serum ferritin And High saturation of transferrintwo proteins protagonists of iron metabolism in the human body. In case of suspected hemochromatosis, the attending physician can then request one genetic analysis that investigates the state of the HFE gene and other genes involved by type 2-5 mutations.
The therapies and health of the affected subjects
The most used therapies are two: the first and simpler is the roomnamely the blood sampling frequent (up to half a liter, once a week) repeated until it reaches low ferritin concentrations and a lower saturation of transferrin.
There “loss” of blood pushes the bone marrow to the production of new red blood cells, which contain hemoglobin, an iron -based protein, whose reserves are therefore “consumed”. This is also the reason for the less incidence of symptoms by hemochromatosis in women“help” from menstrual cycle monthly, at least until the menopause.
Once acceptable values have been reached, the blood sampling becomes less frequent, from 2 to 4 times a year: if there are no other values out of limit, the subject can therefore decide to become A regular blood donorcombining a service of great public utility with one’s health.
The second option involves the use of Ferrochelanti medicinessubstances capable of “capture” iron and favor their expulsion With urine or feces: it is an alternative for patients who, for different reason, could have contraindications following Salassi. With one of these two therapies, people with bloodocromatosis can live a normal lifealso helping others when they give blood.
