Last 4 March Fondazione Gianni Benzi organised in Bari the conference Congenital Haemoglobinopathies: scientific updates and services organization for sickle cell disease, in collaboration with the Puglia Region Department for the promotion of health, social wellbeing and sport for everyone and the University Hospital Policlinico di Bari Department of Hematology with Transplantation.
All the relevant stakeholders, including health authorities policy managers, patients and other public and private experts come back to discuss after a long time scientific updates and, above all, organization of services to identify a common and integrated approach to hemoglobinopathies and, in particular, to the sickle cell disease.
Hemoglobinopathies are the most common hereditary diseases from genetic defects in the world that have a specific interest for their diffusion in Puglia and throughout the Mediterranean area. In particular, the Sickle Cell Disease (SCD) is a serious disease until a few decades ago almost unknown in our countries and today, as a result of migratory flows to Europe, is considered one of the most relevant hematological emergencies in the world.
What about the SCD epidemiology in Italy? According to the data presented by Aurelio Maggio (Franco e Piera Cutino Foundation) and Raffaella Colombatti (Paediatric Oncohemathology – Padua) Italy has 1638 declared cases (both children and adults) of SCD. Although Sicily has the largest number of cases (524), most of the SCD patients live in Northern Italy (939 cases), where hemoglobinopathies are less known.
SCD is a recent health issue in Italy, it is considered as a rare but almost frequent disease. We have to create specific counselling for SCD performed by people trained for it and more and more comprehensive SCD centers all over the national territory. A sound network of pediatric expert centers has been built in the past 15 years, but a limited number of centers is dedicated to adults. A lot of things have been done, but sustainable services still need to be developed nationwide to ensure that all patients receive minimal standards of care and national neonatal screening programs should be set up: this is the challenge now.
Focusing on Puglia, Giorgina Specchia and Daniela Campanale (University Hospital Policlinico di Bari Department of Hematology with Transplantation) illustrated the diffusion of hemoglobinopathies in our Region. Some forms of thalassemias and hemoglobinopathies, such as SCD, betathalassemia, HbD and HbE are present in our territory because of the migration flows.
In order to tackle this situation, the Regionional Government set up the Apulian Network of Thalassemia and Hemoglobinopathies, a clinical and organizational tool involving hospitals, experts, transfusions system, blood donors associations and federations, and the pharmaceutical sector. The network aims at effectively exchange information between all the involved parties, contribute to the primary care planning in hospitals, and guarantee consistent diagnosis and easier accessibility to care for users.
Patients have a key role in this process, because of their daily and direct experience with the disease, for example on failures and benefits of treatments. That’s why the Gianni Benzi Foundation strongly wanted to organize within the conference a roundtable, moderated by Viviana Giannuzzi (Fondazione Gianni Benzi), where patients associations could compare and debate with academia and health authorities, and express their point of view on how to contribute to the advancement of care and the organization of services for SCD. The most important national and regional patients associations accepted to bring their valuable contribution to the discussion: Fondazione Italiana L. Giambrone per la guarigione dalla Thalassemia; Unione delle Associazioni dei pazienti affetti da talassemia, drepanocitosi e anemie rare – UNITED; Rete Associazione Malattie Rare Puglia – A.Ma.Re.; KIDs Bari; Associazione Italiana Thalassemici (Bari and Brindisi areas); Associazione Bambino Talassemico di Taranto.
This event represents the first step of a long journey in which clinicians, experts, public institutions and patients go hand in hand, thus fueling a virtuous circle that brings benefits to all the involved parties and the community. This is the Fondazione Gianni Benzi commitment to the territory and the success of this conference, both in terms of audience and speakers participation, shows that the need to find a common approach is real and shared by everybody.
Watch TG Norba24 report on the conference
Watch TRM24 report on the conference
