La thalassemia is one hereditary disease involving a protein found in the blood, hemoglobin, which is responsible for carrying oxygen to all body tissues. As explains theHigher Institute of Health: «People with thalassemia produce less hemoglobin and red blood cells and, as a result, develop anemia that causes disorders such as fatigue, paleness and shortness of breath».
The incidence in Italy
According to ISS data, it mainly affects populations in the Mediterranean area, South Asia, Southeast Asia and the Middle East. In Italy and in the Mediterranean area the most common form is beta-thalassemia. It is estimated they are about 7,000 people affected by the severe form of the disease, represented by beta-thalassemia type major, also known as Mediterranean anemia or Cooley’s disease.
Healthy carriers: how many are there
While being recognized as rare disease since National Health Service and therefore free of tickets, they are present in Italy about three million healthy carriersalso known as thalassemia minor, thalassemia or thalassemia trait. Healthy carriers are predominantly concentrated in Sardinia, in Sicily, in the southern regions but also in the Po and Veneto delta. They don’t have major health problems but, if their partner is also a healthy carrierare likely to generate severely affected children of thalassemia.
Beta thalassemia: the research
Fortunately, there is good news for thalassemia patients. This is what emerges from the clinical trial published on New England Journal of Medicinewhich showed how 90% of patients treated with gene therapy no longer need transfusions. The first signatory of the study is the Professor Franco LocatelliProfessor of Pediatrics atCatholic University of the Sacred Heart of Rome and Director of the Department of Pediatric Hematology and Oncology of theBambino Gesu Pediatric Hospital. The research, which began in 2016, was conducted in nine centers including Italy, France, Germany, Thailand, United Kingdom and USA and it involved 23 patients with beta thalassemia transfusion dependent: 8 children under 12 and 15 people aged 12 to 50. The Bambin Gesù contributed significantly, treating a third of the patients enrolled.
Cell therapy
The new data on ex-celthe therapy based on CRISPR/Cas9 technology by Vertexconfirmed the potential lasting benefit of therapy for the treatment of beta thalassemia and sickle cell anemia. It’s a autologous cell therapy, ex vivogenetically modified: The patient’s own hematopoietic stem cells are modified to produce high levels of fetal hemoglobin in red blood cells. “This therapy delivers an option for those without a compatible brother or sister or to patients who, despite having them, are beyond above 14 years of age, which is the limit beyond which the risk of mortality from transplantation (of bone marrow or stem cells) becomes too high. Compared to costs, conventional treatment is not less than 25 – 30 thousand euros a year without organ complications. Otherwise the costs go up. In the case of cell therapy i higher costs but increased life expectancies» continues Professor Locatelli.
Stop transfusions
“These data confirm the potential of exa-cel in the make patients with thalassemia independent of transfusions and those with sickle cell disease free of vaso-occlusive crises, with a significant improvement of quality of life. This therapy offers the potential of a functional cure for patients with transfusion-dependent thalassemia or sickle cell anemia, as well as showing a favorable safety profile,” concludes Professor Locatelli.
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