Anemia, bone and muscle abnormalities, spleen, liver and heart abnormalities, growth disturbances, hepatic and endocrine complications, pulmonary hypertension, arrhythmia and thrombosis. They are the symptoms of the various forms of beta-thalassemia, an inherited blood disorder, characterized by reduced levels of hemoglobin, a protein found in red blood cells and carrying oxygen throughout the body. It is classified into three types: minor, intermediate and major. In Italy over 5000 people are affected by the most severe forms. These patients are now available a new therapy: luspatercept which has been shown to reduce blood transfusions by more than 30%. A press conference in Rome was dedicated this morning to innovation in the treatment of beta-thalassemia, promoted by Celgene now part of Bristol Myers Squibb, in view of the World Thalassemia Day which is celebrated on Sunday 8 May.
Goal of the day: to sensitize citizens and institutions on the importance of scientific progress for therapeutic innovation that can offer patients a better life perspective. “Beta-thalassemia links the person to the treatment center: on average 2-3 units of blood are transfused at each session in the hospital, which lasts up to 5 hours. All this affects everyday life and determines disability that affects the quality of life and the psychological state of patients and family members: hence the importance of the availability of an innovative therapy such as luspatercept, capable of transforming their lives “, highlights Raffaele Vindigni, president of United Onlus (National Federation of Associations, Thalassemia, Sickle Cell Disease and Rare Anemias).
“There are, however – he observes – still regional discrepancies in access to the new drug, due to bureaucratic delays that must be overcome as soon as possible. Furthermore, in 2017, the Italian Network of Thalassemia and Hemoglobinopathies was established through a specific law. The implementing decree to secure the network is still missing, allowing it to continue the work carried out in these years of diagnosis, treatment, training and prevention. We must not think about thalassemia by limiting ourselves to the idea that it is enough to receive the blood bag, because the pathology requires constant assistance and instrumental tests to be performed at defined intervals. For this we need uniform protocols throughout the territory “.
“The definition of the functions of the Network through the implementing decree – he continues GianLuca Forni, Director of Hematology, Center for Microcythemia and Congenital Anemias, Galliera Hospital in Genoa – it can also guarantee stability to individual centers. This provision will also be useful for assessing the transfusion needs of the various areas, so as to report difficulties and make up for seasonal shortages which, for people who are in constant need of blood, represent a significant problem “.
Sicily – it emerged from the meeting – is virtuous from this point of view because, since 1984, it has activated the Sicilian Register of Thalassemia and Hemoglobinopathies (Reste), being one of the regions most affected by the disease. In fact, there are 1167 patients with beta thalassemia major on the island (as of 31 December 2019).
“It has also been operational since 2011 the Regional Network of Thalassemia and Hemoglobinopathies (RRTE), which allows the disease to be managed uniformly across the territory – he concludes Roberto Lisi, head of the Thalassemia Arnas Garibaldi departmental operational unit of Catania -. During the pandemic we faced numerous difficulties in obtaining blood, with a great effort by voluntary associations and blood transfusion centers to limit the possible negative consequences for patients. Furthermore, coordination with the regional blood center is strong because, thanks to the Registry which provides reliable data on the number of patients requiring transfusions, we know exactly how many units of blood are served on average on the island every year. For example – he concludes – in 2021 in the center of Catania, where we follow 189 patients, we transfused about 6000 units of blood ”.
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