What is Hemochromatosis: Symptoms, Causes, Drugs for Treatment and Prevention

Medicines

Hemochromatosis must be treated promptly, even if, unfortunately, the disease is not always diagnosed early; the onset of symptoms, as well as the intensity with which they manifest themselves, is rather gradual and is heavily influenced by the amount of excess iron absorbed by the body. According to these words, it is understandable how the removal of the surplus of iron – before the hemochromatosis degenerates – is, to say the least, essential to escape the complications of the disease.
The treatment of choice, even in the genetic form of hemochromatosis, is therefore the removal of excess iron: this practice, called phlebotomy, consists in the regular extraction of blood (in a similar way to blood donation), in order to restore the normal plasma iron level. It is not possible to report an approximate amount of blood taken: this element depends on the age of the patient, the concentration of iron in the blood and the general health of the patient.
In case of confirmed hemochromatosis, the patient must also be instructed on the correct dietary approach: therefore, all foods in which iron is present in abundance, such as red meat, offal and shellfish, should be avoided. On the other hand, foods rich in fiber (wholemeal bread, wholemeal pasta, vegetables, etc.) should be consumed in abundant quantities in the context of hemochromatosis, since phytates and fiber decrease intestinal absorption of iron. However, the consumption of alcohol is prohibited: respecting this dietary rule is very important to curb damage to the liver.
As regards drugs, the administration of chelating substances is the most suitable: chelating substances favor the expulsion of iron from the body, through feces or urination. Chelation therapy is often associated with the concomitant administration of ascorbic acid.

Below are the classes of drugs most used in the therapy against hemochromatosis, and some examples of pharmacological specialties; it is up to the doctor to choose the most suitable active ingredient and dosage for the patient, based on the severity of the disease, the patient’s state of health and his response to the treatment:

Long-term chelation therapy for the treatment of hemochromatosis

• Desferrioxamine (e.g. Desferal): very important chelating drug capable of complexing iron and promoting its expulsion towards the outside through urination. The drug is available as a powder and solvent for solution for injection; in most cases, Desferal therapy should be started following 10-20 blood transfusions. The dosage must be carefully established by the doctor based on the severity of the hemochromatosis, as well as the concentration of iron in the blood. It is also recommended to monitor the amount of iron excreted in the urine (after the dose of the drug) during the 24 hours following administration of the drug. As an approximate value, it is possible to report that the average daily drug dose is between 20 and 60 mg/kg; the drug is administered by subcutaneous infusion over 8-12 hours, 3-7 times weekly. Desferrioxamine is the drug of choice used in therapy for the treatment of hemochromatosis.
• Deferasirox (e.g. Exjade): this is another chelating drug to be taken orally, not marketed in our country. The drug, available in tablets to be dissolved in water or juice, is indicated for children over the age of 6 and for adults suffering from hemochromatosis, forced to undergo numerous blood transfusions. The drug is generally prescribed when Desferrioxamine is not indicated for that patient. Indicatively, start therapy with a dose of drug estimated at around 10-30 mg/kg, once a day (based on the concentration of ferritin in the blood and the quantity of blood used during the transfusion); it is recommended to take the drug on an empty stomach, at least 30 minutes before a meal, at approximately the same time every day. The maintenance dose must be perfected in each individual case; generally, adjust the dosage by 5-10 mg/kg every 3-6 months. Do not exceed 30 mg/kg per day.
• Deferiprone (e.g. Ferriprox): as an alternative to Desferrioxamine (in patients suffering from hemochromatosis who do not tolerate standard chelation therapy), it is recommended to take Deferiprone, a rather recent oral chelating drug, indicated for the accumulation of iron (especially for patients with thalassemia major). The drug is available in 500 mg tablets or as a 100 mg/ml oral solution. Indicatively, the dosage suggests taking 75-100 mg/kg of drug per day, in three equally divided doses. For the treatment of hemochromatiosis, do not exceed the dose of 100 mg/kg/day.

Supplementary therapy with vitamin C, to be associated with chelation therapy

• Vitamin C (e.g. Redoxon, Cebion, Cimille, Univit, C Tard, Agruvit, Univit, Duo C): ascorbic acid supplementation is important in patients undergoing iron chelation therapy. It is considered very probable that excess iron determines, as a consequence, a vitamin C deficiency (to the point of degenerating into scurvy): the explanation for what has been said lies in the hypothesis that iron oxidises vitamin C. Vitamin C supplementation in association with chelation therapy for the treatment of hemochromatosis is essential to increase and promote the excretion of excess iron. It is therefore recommended to undertake supplementary therapy with vitamin C, to be started 28 days after the first administration of the chelating drug. Indicatively, administer 50 mg of ascorbic acid to children under 10 years of age; double the dose for older children. For adults following chelation therapy to treat hemochromatosis, it is possible to take up to 200 mg of ascorbic acid per day.