Definition
The term "thalassemia" refers to a serious genetic disease in which the body synthesizes an abnormal form of hemoglobin, responsible for the progressive destruction of red blood cells. Severe thalassemia (variant major) can be fatal to the fetus (death looms before birth, or soon after), while the form minor tends to show symptoms more slowly (after 2 years from birth).
Causes
Thalassemia is the result of a "genetic anomaly: hemoglobin is composed of two proteins, alpha-globulin and beta globulin, made up, respectively, of 4 and 2 globular sub-units. Each globular sub-unit is encoded by a gene, therefore the mutation of one or more genes creates the damage, therefore the synthesis of a "defective hemoglobin.
Symptoms
The variant major of thalassemia causes immediate damage, leading the fetus to death before delivery or immediately thereafter. Shape minor on the other hand, it is characterized by a very pronounced form of anemia, accompanied by fatigue, altered mood (irritability), growth failure, deformity of the facial bones, jaundice, shortness of breath and dark urine.
- Complications: increased risk of bone breaks and infections, bone deformities, hemochromatosis, fragility of the bone mass, splenomegaly
The information on Thalassemia - Medicines for the Treatment of Thalassemia is not intended to replace the direct relationship between health professional and patient. Always consult your doctor and / or specialist before taking Thalassemia - Medicines to Treat Thalassemia.
Medicines
Currently, there is no effective alternative drug or treatment for treating thalassemia, as we are talking about a genetically transmitted disease; in any case, the researchers focus on improving the quality of life of patients suffering from thalassemia, looking for a remedy to alleviate, as much as possible, the symptoms and slow down the inexorable progression of the disease.
It should be emphasized, however, that some affected patients do not complain of symptoms: in individuals who are completely healthy and healthy, a single gene mutation is observed, often insufficient to trigger a precise thalassemia symptomatology. However, these patients must undergo periodic medical checks, in order to intervene promptly if the disease generates disturbances over the years; despite the fact that pharmacological treatments are not normally necessary for patients with thalassemia minor, blood transfusions can be useful on some occasions, such as childbirth and surgery.
Remember, however, that a healthy carrier can transmit the disease to offspring.
Different discourse must be faced for the medium or severe forms of thalassemia, therefore those in which the genetic mutation involves more genes; blood transfusions are the most immediate therapeutic approach to cancel, albeit temporarily, the symptoms of thalassemia. Nevertheless, this remedy is not without side effects: frequent blood transfusions can predispose the patient to an accumulation of iron in the blood, up to hemochromatosis. This consequence requires immediate therapeutic intervention, aimed at eliminating the storage of the iron.
When thalassemia is responsible for severe body dysfunctions, the most effective alternative treatment strategy turns out to be bone marrow transplantation.
The following are the classes of drugs most used in the therapy against thalassemia, 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 state of health of the patient and his response to treatment:
THERE IS NO DRUG FOR THE TREATMENT OF THALASSEMIA: the medical remedies and therapeutic strategies listed below aim to reduce symptoms and improve the patient's quality of life.
Medicines for the treatment of hemochromatosis: the accumulation of iron in the blood constitutes one of the most immediate consequences deriving from the frequent blood transfusions, which a thalassemic needs. To deal with hemochromatosis, the doctor generally proposes a therapy with chelating drugs, capable, therefore, of sequestering the iron accumulated in the blood and eliminating it through urination. The following are the active ingredients most used in therapy and the pharmacological specialties available on the market.
- Desferrioxamine (eg Desferal): drug of choice for the treatment of iron accumulation in the context of thalassemia
- Deferasirox (eg exjade): drug not available in Italy
- Deferiprone (eg. Ferriprox): to be taken in case of allergy / intolerance to Desferrioxamine
For the posology: read the article on drugs for the treatment of hemochromatosis
It is recommended to combine the chelation therapy with a supplementation of Vitamin C (eg. Redoxon, Cebion, Cimille, Univit, C Tard, Agruvit, Univit, Duo C): the accumulation of iron in the blood, in fact, produces a deficit of ascorbic acid , given that the mineral tends to oxidize vitamin C. According to this, it seems that the supplementation of vitamin C in patients suffering from hemochromatosis in the context of thalassemia is essential to increase and favor the elimination of accumulated iron.
Ascorbic acid therapy should begin one month after the start of chelation therapy.
Dosage: for children under the age of 10 with thalassemia and hemochromatosis. take 50 mg of the drug per day. For thalassemic adults, double the daily dose of the drug.
Drugs for the treatment of splenomegaly: enlargement of the spleen is a symptom that unites many patients with thalassemia. Among the most accredited solutions to solve this problem, the removal of the spleen (splenectomy), always associated with vaccination, before and after stands out. the intervention.
For further information: read the article on drugs for the treatment of splenomegaly
Innovative drugs and hopes for a cure for the treatment of thalassemia
Science is mobilizing with giant steps towards a cure (or an attempt at therapy) for thalassemia. Some researchers venture to speak of "pharmacological induction of the gamma gene", consisting in the stimulation of "HbF (fetal hemoglobin) with a cytotoxic drug (5-azaticidine, eg. Vidaza). A brilliant hypothesis at first glance, which soon reveals itself as a defeat in because of the high carcinogenic power of the substance.
To replace this powerful drug, an "other molecule," hydroxyurea, was hypothesized, having a lower toxicity than the previous one: when tested in man, this drug seems able to reduce, albeit moderately, the frequency of thalassemic crises.
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