Blood & Beyond project

Thalassaemia: 7,000 patients in Italia, treatment and blood at the centre of priorities

New advanced therapies open up new perspectives but require appropriate organisational models so as not to amplify inequalities on the ground

by Susanna Barella* and Raffaella Origa**

4 May 2026

2' min read

Translated by AI

Versione italiana

2' min read

Translated by AI

Versione italiana

Thalassaemia, classified as a rare disease, continues to represent a major public health challenge. In Italia, at least 7,000 people are estimated to be affected, most of them with transfusion-dependent forms: symptoms appear in the first months of life and require transfusions every 2-3 weeks and daily iron chelation therapy, with a significant impact on quality of life.

Thanks to advances in research, much of it developed in our country, the disease has gone from rapidly fatal to a manageable chronic condition. Increasing life expectancy, however, has made care needs more complex and ongoing, while the focus on their health and economic impact has gradually decreased.

Homogeneous access across the territory

Structural criticalities persist: territorial inhomogeneities, uneven access to services, and failure to make fundamental governance tools fully operational. Among these, the National Pathology Registry, set up in 2017 at the National Blood Centre, is still not active. Similar situation for the National Network of Thalassaemias and Haemoglobinopathies, established in 2023, which should guarantee coordination and homogeneity of care, and the absence of a national PDTA.

Furthermore, historical criticalities remain open: the not always adequate availability of blood for transfusions, the limited involvement of new generations in donation and the progressive ageing of donors.

The Blood & Beyond project

The new advanced therapies open up unprecedented prospects, but require appropriate organisational models. The risk is that innovation proceeds at different speeds across the territory, amplifying inequalities.

On 21 April 2026, at the Senate, the conference 'Beta-thalassaemia: towards an integrated national strategy' brought together institutions, clinicians and patient associations. The event marked the final stage of the 'Blood & Beyond' project, a pathway that brought together the clinical-institutional tables of Campania, Sicily, Sardinia and Apulia to define shared priorities and promote an appropriate use of the blood resource, in line with European guidelines on Patient Blood Management.

The situation in Sardinia

This is of particular importance in Sardinia, where transfusion independence has never been achieved: approximately 110,000 units of blood are consumed each year, of which only 80,000 are collected; approximately 40% of the blood resource is used for the treatment of haemoglobinopathies. Sardinia is the Italian region with the highest number of patients compared to the general population: 1006 patients suffering from transfusion-dependent thalassaemia and another 600 suffering from the intermediate form in a population of 1,570,453 inhabitants. This is the consequence of the high prevalence of healthy carriers due to both the selection operated in the past by malaria and the founder effect. Unfortunately, these patients are still unevenly distributed among the 11 centres dealing with these diseases. The regional network was established in 2023 but is not yet fully active. Cagliari is the HUB centre and is in charge of around 500 TDT and 350 NTDT patients. In Sardinia, 6-8 affected babies are born every year. It is likely that new treatment perspectives, including gene therapy, will increase these births. The PDTA dedicated to these pathologies exists but needs to be updated and shared at regional level.

*Representative of the National Table of Thalassaemias and Haemoglobinopathies and director of the SC Microcythaemias and Rare Anaemias of the Antonio Cao Microcythaemia Hospital in Cagliari

**SITE President