National Haemoglobinopathy Register

With the Prime Minister’s Decree “Identification of surveillance systems and registers of mortality, cancer and other diseases” of 3rd March 2017, published in the Official Gazette No. 109 on 12th May of the same year, the National Haemoglobinopathy Register was instituted at the Italian National Blood Centre (CNS). This register will make it possible to carry out a census of patients suffering from these diseases, whereas currently a calculation based on estimated prevalence is made. In order to fulfil its legal obligations, the CNS set up a Steering Committee and a Technical-Scientific Committee entrusted with the tasks of managing and supporting all technical-scientific activities and issues related to the Register. This task force is formed of representatives from the scientific societies SITE (Italian Society of Thalassaemia and Haemoglobinopathies), SIMTI (Italian Society of Transfusion Medicine and Immunohaematology), AIEOP (Italian Association of Paediatric Haematology Oncology), the heads of the coordination centres for transfusion activities in Sicily and Sardinia, where the largest number of patients with these diseases reside, representatives from patient associations (United Onlus and the Giambrone Foundation), a European expert in bioethics, and the Italian National Centre for Rare Diseases of the Italian National Institute of Health. The creation of the register was a fundamental step to optimise also at regional level the planning of transfusion-medicine-related production activities, the management of blood resources, and the prevention of blood shortages.

According to the information received to date, 103 treatment centres serving 11,282 patients suffering from hereditary anaemias have been surveyed throughout the country. Of these, 6337 cases of thalassaemia (1404 intermediate thalassaemia, 2981 thalassaemia major, 40 thalassaemia minor, 1912 unspecified thalassaemia) and 2023 cases of other haemoglobinopathies (1275 sickle-cell anaemia, 603 cases of thalassaemia, and 145 other unspecified haemoglobinopathies) have been registered. When the register was created, work began on drafting the regulations on the protection of personal data and on the running of the register itself.

The creation of the Haemoglobinopathy Register has improved and ensured throughout Italy equitable patient management of those who need continuous care with the infusion of no fewer than 2 units of blood every 15-20 days.