What is Thalassemia: Types, Complications, Symptoms & Treatment

Medicines

Currently, there is no effective drug or alternative treatment for the treatment of thalassemia, given that 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 the symptoms as much as possible and slow down the inexorable progression of the disease.
It should be underlined, however, that some affected patients do not complain of symptoms: in completely healthy carriers, the mutation of only one gene is observed, often insufficient to trigger precise thalassemia symptoms. These patients must however undergo periodic medical checks, in order to intervene promptly if the disease generates problems over the years; although pharmacological treatments are not normally necessary for those suffering from thalassemia minorblood transfusions can be useful on some occasions, such as childbirth and surgery.
We remember, however, that a healthy carrier can transmit the disease to their offspring.
A different discussion must be addressed for medium or severe forms of thalassemia, therefore those in which the genetic mutation involves multiple genes; blood transfusions constitute the most immediate therapeutic approach to cancel, albeit temporarily, the symptoms of thalassemia. Nonetheless, 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 iron storage.
When thalassemia is responsible for serious dysfunctions of the organism, the most effective alternative therapeutic strategy turns out to be bone marrow transplant.

Below are the classes of drugs most used in 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 patient’s state of health and his response to the treatment:

THERE IS NO DRUG FOR THE TREATMENT OF THALASSEMIA: the medical remedies and therapeutic strategies reported below aim to reduce the symptoms and improve the patient’s quality of life.

Drugs for the treatment of hemochromatosis: the accumulation of iron in the blood constitutes one of the most immediate consequences resulting from the frequent blood transfusions, which a thalassemia person needs. To deal with hemochromatosis, the doctor generally suggests therapy with chelating drugs, capable, therefore, of sequestering the iron accumulated in the blood and eliminating it through urination. Below are the active ingredients most used in therapy and the pharmacological specialties available on the market.

For dosage: read the article on drugs for the treatment of hemochromatosis

It is recommended to accompany chelation therapy with a supplementation of C vitamin (e.g. 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 vitamin C supplementation in patients suffering from hemochromatosis in the context of thalassemia is essential to increase and promote the elimination of accumulated iron.
Ascorbic acid therapy should begin one month after starting chelation therapy.
Dosage: for children under 10 years of age suffering from 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: the enlargement of the spleen is a symptom that many patients suffering from thalassemia have in common. Among the most accredited solutions to solve this problem, the removal of the spleen (splenectomy) stands out, always associated with vaccination, before and after the operation.
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 taking giant steps towards a cure (or an attempted therapy) for thalassemia. Some researchers dare to speak of “pharmacological induction of the gamma gene”, consisting in the stimulation of HbF (fetal hemoglobin) with a cytotoxic drug (5-azaticidin, e.g. Vidaza). Brilliant hypothesis at first glance, which soon turns out to be a defeat due to the high carcinogenic power of the substance.
As a replacement for this powerful drug, another molecule was hypothesized, hydroxyurea, having a lower toxicity than the previous one: tested in humans, this drug seems capable of reducing, albeit moderately, the frequency of thalassemia crises.