MILAN (ITALPRESS) – Thalassemia is a genetic blood disease that causes chronic anemia and can cause serious complications affecting various organs. In Italy, it is estimated that around 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. To understand the clinical and social impact of thalassemia as well as its therapeutic prospects, Avanzanite Bioscience Italia promotes the media tutorial “Journey to Thalassemia: burden, clinical management, treatment today and the future”, which involves the participation of internationally renowned experts.
At the meeting, specialists explored the evolution of clinical management of thalassemia, from transfusion therapy to iron chelation, to new therapeutic options being developed.
It is a disease that includes different clinical features, defined according to the type of genetic mutation involved in hemoglobin production: thalassemia a, associated with alterations of the alpha chain, less common in our country, and thalassemia b, characterized by a defect in the synthesis of the beta chain. 1 Furthermore, depending on the severity of the anemia, we can differentiate the 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 the non-transfusion-dependent form, which is characterized by less severe anemia but which, over time, is still associated with clinical complications related to reduced tissue oxygenation and progressive iron accumulation due to ineffective erythropoiesis. 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.
“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 birth of new cases, but in Italy thousands of people live with this condition and require specialized care throughout their lives. Thanks to advances in transfusion therapy and iron chelation, life expectancy has increased significantly; however, despite improvements in survival, quality of life must remain at the center of our attention. The commitment is to personalize treatment based on the age, comorbidities and clinical history of each patient, thereby guaranteeing effective care globally.”
Red blood cell transfusion is the cornerstone of therapy in transfusion-dependent thalassemia 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 nontransfusion-dependent forms of anemia, even if the anemia is less severe, may experience complications that require monitoring and therapeutic intervention. “The burden of health and psychological care remains high for patients and their families,” emphasizes Filomena Longo, Director of the UOC Thalassemia and Haemoglobinopathies at Arcispedale S. Anna in Ferrara. “The need to plan regular transfusions, control iron overload and frequent instrumental monitoring determines the important complexity of management. In addition, the prolongation of survival has led to the emergence of comorbidities such as endocrinopathies, cardiovascular complications and osteoporosis, which require a constant multidisciplinary approach.”
The impact of thalassemia extends throughout the patient’s life and, in particular, dependence on transfusions affects the daily lives of young people, who have to adapt therapy to school, family and social activities.
“For most patients, blood represents the first medicine, a medicine that cannot be bought but allows you to live”, explains Raffaella Origa, Professor of Pediatrics at the University of Cagliari. «Transfusions are intended to allow adequate growth, ensure adequate tissue oxygenation and reduce ineffective marrow erythropoiesis, thereby helping to limit intestinal iron absorption. However, treatment must be accompanied by correct iron chelation therapy to prevent organ toxicity.
Adherence to therapy, which must be maintained throughout life, is an important and sometimes difficult element, especially in young patients. The research offers new therapeutic opportunities, with drugs capable of increasing hemoglobin levels and reducing the need for transfusions, increasing independence and better quality of life for patients.”
Although the management of thalassemia has taken decisive steps in recent decades, the disease continues to be a complex challenge that affects people’s daily lives and has a significant impact in terms of healthcare resources, hospital access, and multidisciplinary management. Therapeutic innovations being developed 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.
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