When will thalassemics be able to say goodbye to transfusions?

I am 45 years old and since I was a child I suffer from thalassemia, so I undergo regular transfusions, with relative checks. Then I follow the other therapies to reduce the excess iron that comes from continuous transfusions. I know that there are new therapies being tested that could change the lives of those suffering from this disease, but I ask: is gene therapy also available in Italy? And for what types of patients?

Replies Emanuele Angelucci, vice president of the Italian Society of Hematology and director of Hematology and the Transplant Center at the San Martino Polyclinic Hospital in Genoa.

In Italy, one of the most affected European countries, between 6 thousand and 7 thousand patients with severe beta-thalassemia (and therefore transfusion-dependent) live, to which are added more or less as many with a less severe disease, which therefore they have to undergo less demanding therapies (ie transfusions that are more delayed in time), which do not prevent an almost normal life. The most severe form occurs before two years of life, while the intermediate one appears later.

Symptoms and causes

Jaundice, poor growth of the baby, unexplained crying, pallor, enlargement of the spleen are the most typical symptoms of the disease that should not be overlooked because starting treatment immediately is important. At the base of thalassemia (also known as Mediterranean anemia because historically it is more diagnosed in countries bordering the Mediterranean), a genetic and hereditary disease, there is a defect in the production of hemoglobin: that is, in practice, the stem cells in the marrow are “Damaged” and unable to produce an adequate amount of red blood cells with normal quality and quantity of hemoglobin. This is what obliges patients to continuous blood transfusions that must be performed in the hospital approximately every 20 days throughout their life and whose “side effect” is that accumulation of iron that must be disposed of with special therapies, so-called iron chelators, because otherwise it accumulates in the organs causing severe damage (such as heart failure or liver cirrhosis).

Gene therapy and “gene editing”

With gene therapy, however, the lives of patients could change: an international study, presented at the recent congress of the Italian Society of Hematology by Franco Locatelli, president of the Superior Health Council and director of Hematology and Oncology of the Bambin Gesù Hospital in Rome, showed that independence from transfusion needs was achieved in 35 out of 44 patients undergoing gene therapy. However, these products are extremely expensive and, in the absence of an economic agreement between the pharmaceutical company and the European regulatory authorities, it is currently not possible to have access to them in Europe. But in addition to this gene therapy (called “insertion or gene addition”, as the missing or non-functioning gene is inserted into the stem cells), there is another method now in an advanced phase of experimentation which is the one called “gene editing” . This last technique removes the gene that suppresses, from the first months of life of the newborn, the production of fetal hemoglobin and allows the cells to continue producing it. And in this way patients are able to achieve the same goal, namely independence from continuous lifelong transfusions. The experimental protocols for “gene editing” are also available in Italy at the Bambin Gesù Hospital in Rome and enrollments are open for patients from 12 years of age (but an extension from 5 years of age is foreseen). a few months), both for transfusion-dependent thalassemia and sickle cell syndrome.