Iron is a fundamental trace for life thanks to its ability to acquire and give electrons. It favors, among other substances, the production of proteins and hemoglobin to facilitate the growth and development of the organism. If there is an absence of iron in blood, a ferropenic anemia can occur and if there is excess there is a toxic situation: hemochromatosis. When it is hereditary, it usually affects men over 50 years. Thanks to menstruation, women often avoid excessive accumulation but after menopause or hysterectomy their risk of suffering the disease increases.
Iron is acquired through feeding and accumulating too much iron generates oxygen -free radical to the endocrine system.
Causes of hemochromatosis
Hereditary or acquired
The causes of hemochromatosis are: hereditary or acquired. In this way this disease is classified as:
– Hereditary hemochromatosis: It is considered as the most frequent hereditary disease in the West and is due to a genetic alteration, normally, by mutations in the HFE gene of the short arm of chromosome 6. This gene participates in the regulation of the absorption of iron. To suffer from this disease, it is necessary to inherit the mutated gene of both parents; If only one is inherited, it is a carrier.
– Secondary hemochromatosis: result of blood transfusions, hemolytic anemia, talasmia, liver disease such as hepatitis C or alcoholic liver disease.
Symptoms of hemochromatosis
Asymptomatic until median age
Hereditary hemochromatosis usually does not present symptoms up to 50 years or more and the first signs (joint pain, abdominal pain, fatigue and drowsiness) can be confused with other diseases. When the damage has advanced the symptoms are:
– Diabetes.
– Joint disease.
– Cutaneous darkening.
– Loss of sexual desire.
– Impotence.
– Arrhythmias.
– Heart failure.
– Hepatic insufficiency.
Diagnosis of hemochromatosis
Various tests
Because the first symptoms of primary hemochromatosis (joint pain, abdominal pain, fatigue and drowsiness) can be confused with other ailments. The diagnosis of hemochromatosis can suffer some delay before considering, given the suspicion of the disease, perform the following tests Laboratory:
– Serum ferritin.
– Serum iron.
– Percentage of blood transfer saturation.
– Blood glucose level.
– Genetic tests (usually to detect HFE gene).
– Magnetic resonance.
– Liver biopsy.
If there is suspicion of heart complications, echocardiography and electrocardiogram can be requested.
Treatment and medication of hemochromatosis
Flobotomies and iron chelants
In the case of primary hemochromatosis, the reference treatment is phlebotomy. It is extraction of about 450 milliliters of blood every week until iron has normal levels. Then you will need to perform the procedure less frequently.
If phlebotomy is not possible, as is usually the case in secondary hemochromatosis, treatment is performed with iron chelants, which manage to adhere to excess iron and eliminate through urine or feces. Quelation is administered by intramuscular injection such as deferoxamine or oral via such as deferriprona.
Hemochromatosis prevention
Genetic tests
Performing a genetic analysis to confirm the risk of hemochromatosis is a prevention measure indicated at the medical level. Apart, we must not give up red meat or products made with blood or foods rich in vitamin C in the diet. What should be avoided is:
– Alcohol consumption.
– Iron and vitamin C. supplements
– Fish and raw shellfish as it increases the risk of bacterial infections to which patients with hemochromatosis are prone.
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