Rome, November 12 (Adnkronos Health) – The evolution of clinical management of thalassemia, from transfusion therapy to iron chelation, to new therapeutic options being developed. This is the theme of the media tutorial ‘The journey through thalassemia: burden, clinical management, treatment today and the future’, promoted by Avanzanite Bioscience Bv. Thalassemia – recalls one note – is a genetic blood disease that causes chronic anemia and can lead to serious complications affecting various organs. In Italy it is estimated that about 7,200 people live with severe thalassemia, with a higher prevalence in Sardinia, Sicily and Calabria, and about 3 million people are healthy carriers of thalassemia. In recent decades, advances in transfusion therapy and iron chelation have allowed a significant increase in life expectancy, which can now exceed 70 years in transfusion-dependent patients. However, the burden of this disease remains high and requires a structured and sustainable approach.
The pathology includes different clinical features, defined according to the type of genetic mutation involved in hemoglobin production: α-thalassemia, associated with alterations of the alpha chain, less common in our country, and β-thalassemia, characterized by a defect in the synthesis of the beta chain. In addition, depending on the severity of the anemia, we can distinguish between a transfusion-dependent form of anemia, i.e. the patient requires regular red blood cell transfusions every 2-4 weeks to maintain adequate hemoglobin levels and prevent organ damage, and a non-transfusion-dependent form, which is characterized by less severe anemia, but over time is still associated with clinical complications related to reduced tissue oxygenation and progressive iron accumulation due to ineffective erythropoiesis.
“Thalassemia is a chronic hereditary disease that involves not only the blood, but also many organs and systems, with significant clinical and psychological impact – explains Maria Domenica Cappellini, honorary professor of Internal Medicine at the University of Milan – Prevention and early diagnosis have reduced the emergence of new cases, but in Italy thousands of people live with this condition and require specialist care throughout their lives. Thanks to advances in transfusion therapy and iron chelation, life expectancy has increased significantly; however, although survival rates have increased, quality of life must remain at the center of our attention. The commitment is to personalize care based on each patient’s age, comorbidities and clinical history, thereby ensuring truly global management.”
Red blood cell transfusion – the note continues – represents the cornerstone of therapy in transfusion-dependent diseases and allows normal growth in children and maintenance of physical activity and work in adults. However, the resulting iron accumulation results in the need for ongoing iron chelation therapy to prevent sometimes severe organ complications. Even patients with non-transfusion-dependent forms of the disease can experience complications that require monitoring and therapeutic intervention.
Filomena Longo, director of the UOC Thalassemia and Hemoglobinopathies at Aou Arcispedale Sant’Anna in Ferrara emphasized that the burden of health and psychological care remains high for patients and their families. The need to plan regular transfusions, control of iron overload and frequent instrumental monitoring determines the important complexity of management. In addition, prolongation of survival has led to the emergence of comorbidities such as endocrinopathies, cardiovascular complications and osteoporosis, which require constant multidisciplinarity. Therefore, a network of specialist centers working together synergistically is essential, ensuring continuity of service and uniformity of treatment throughout the country.”
Dependence on transfusions impacts the daily lives of young people, who must adapt therapy to school, family, and social activities. “For most patients, blood represents the first medicine, a medicine that cannot be purchased, but which allows you to live – says Raffaella Origa, professor of Pediatrics at the University of Cagliari – Transfusion aims to allow adequate growth, ensure sufficient oxygenation of the tissues and reduce ineffective medullary erythropoiesis, thus helping to restrain the absorption of iron in the intestine. However, treatment must be accompanied by correct iron chelation therapy to prevent organ toxicity. Therapeutic compliance, which must be maintained throughout life, is an important element and sometimes difficult, especially in younger patients. Research offers new therapeutic opportunities, with drugs capable of increasing hemoglobin levels and reducing the need for transfusions, promoting greater autonomy and better quality of life for patients.” The therapeutic innovations being developed – the experts conclude – aim to further improve the control of anemia and iron overload, with the aim of making the treatment pathway more sustainable and accompanying patients towards a better quality and life expectancy.
