An overview of the health system response to haemoglobinopathies in Italy

1. www.humanvariomeproject.org/GG2020
Global Globin 2020 Challenge
(GG2020)
Domenico Coviello, MD, PhD
(Data kindly provided by Dr. Giovanni Ivaldi)
Genoa, Italy
Area of interest: Thalassaemia / SCD

2. www.humanvariomeproject.org/GG2020
Background & Epidemiology
• Incidence/prevalence of Thalassemia/SCD in Italy
• today to migration is estimated an overall incidence of about 5-6% (thalassemia and SCD)
• What is known about the disease burden in Italy?
• Both Thalassemia and SCD are very well known in Italy from many decades, population screening are in place
and the NHS is taking care of patients for diagnosis and treatment
• Is there any central reporting of cases?
• Yes, data are reported at regional level and then at national level at National Institute of Health (ISS)
• What information is readily available and what is the quality?
• National guidelines and good information among heath care providers are present
• Is there any national coordination?
• Yes, National Society: Società Italiana Talassemie ed Emoglobinopatie (SITE) (http://www.site-italia.org)
• Primary health care delivery – are haemoglobinopathies included?
• Yes
• Is there a national screening service for haemoglobinopathies?
• Yes

3. www.humanvariomeproject.org/GG2020
Background & Epidemiology (survey 2010)
• Public clinical centers:
• 134 at least 1 per Region
• Laboratories performing biochemical and molecular diagnosis
• Screening for the first level: about 400
• Second level analysis (molecular): about 20
• Second level prenatal analysis: 7
• How many patients are followed?
• Thalassemia major: 4248
• Thalassemia intermedia: 1065
• SCD: 1341 (today this number is higher)
• TOTAL: 7244 (survey 2010)
• What information is readily available and what is the quality?
• National guidelines and good information among heath care providers

4. www.humanvariomeproject.org/GG2020
Current progress in the country
Data kindly provided by Dr. Giovanni Ivaldi
A Countries where services are well established with a national system for prevention and control
NATIONAL RECOMMENDATION BY THE ITALIAN SOCIETY OF THALASSEMIAS AND HAEMOGLOBINOPATHIES
Società Italiana Talassemie ed Emoglobinopatie (www.site-italia.org)
RACCOMANDAZIONI PER LA DIAGNOSTICA DI PRIMO LIVELLO DELLE EMOGLOBINOPATIE
Recommendation for the first level diagnosis of haemoglobinopathies
RACCOMANDAZIONI PER LA GESTIONE DEL PAZIENTE ADULTO AFFETTO DA ANEMIA FALCIFORNE
Recommendation for the management of adult patients affected by Sickle Cell Disease
RACCOMANDAZIONI PER LA DIAGNOSI NEONATALE DELLE EMOGLOBINOPATIE
Recommendation for the neonatal diagnosis of haemoglobinopathies
RACCOMANDAZIONI PER LE STRATEGIE TRASFUSIONALI NELLE EMOGLOBINOPATIE
Recommendation for the transfusion treatment of haemoglobinopathies

5. www.humanvariomeproject.org/GG2020
National Registry
• Is there a national registry for Thalassaemia / SCD of some kind?
• Yes, there are several regional registry with more clinical data and a national
registry with a more simple data set
• Who is responsible for it?
• The regional governments or the National Institute of Health (ISS-Istituto
Superiore di Sanità)
• Who pays for it?
• The National health System
• Who has access to the registry and how is access regulated?
• Public heath institutions and Directors of clinical centers, regulated by
national privacy law

6. www.humanvariomeproject.org/GG2020
Database 1
• Is there a national database of some kind?
• Some data are into the registries but there is not a official national database.
• There are data bases of specific institutions
• Who is responsible for it?
• Head of public institutions or the National Institute of Heath
• Who pays for it?
• The National Health System
• What information is available inside the database?
• hemoglobin variants and mutations? YES
• genotype and phenotype data? YES
- -globin gene? YES
- -globin? YES
- other genes? YES
- variants (SNP/others)? MANY

7. www.humanvariomeproject.org/GG2020
Database 2
• Clinical data available?
• A minimum data set is available, in some centers all clinical data
• Hb analysis?
• Hb A, Hb A2, Hb F & Others? YES
• Full blood count (FBC)/Full blood picture/Others? YES
• Nutritional anemia (Serum Ferritin) ? YES
• Biological data available? Biobanks available?
• Only few centres have biological smaples stored, very few in an official Biobank
• Our laboratiry has a ISO9001 Certified Biobank part of Telethon network

8. www.humanvariomeproject.org/GG2020
Funding
• Sources of funding available
• National Health System, University, Rotary project
• Technical assistance, training and equipment available
• Many centres could provide technical assistence and having good equipment be
ready to help in doing diagnosis or quality control
• University and main hospital can help in training
• In both cases specific agreement are needed
• Research: any national research projects exist that are directed to
haemoglobinopathies?
• Yes, in particular two main centrs are focussed to gene therapy
• Any international research project / collaboration exist?
• Yes, ENERCA, ....

9. www.humanvariomeproject.org/GG2020
Problems/Constraint/Challenges If Any?
• Treatment:
- supportive measures YES
- national blood transfusion services YES
- Iron chelation & medications YES
• What type of Iron chelation is available in your country?
- Deferoxamina (Desferal)→Deferiprone→Deferasirox
• Counselling/prevention services:
- Genetic counselling to patients & families ? YES
- Prenatal diagnosis? YES
- Carrier detection ? YES
- Premarital counselling? YES

10. www.humanvariomeproject.org/GG2020
Recommendation/Plan
• Do you have any suggestion for funding?
• Join effort with WHO
• EU projects
• World bank
• Any recommendation for a joint research?
• ENERCA project
• Other suggestions?
• COST Action to get together and brainstorming

11. www.humanvariomeproject.org/GG2020
Affiliated Society/Association
• Is there a national society / association for Thalassemia/ Sickle Cell Disease
in your country
• National Society: Società Italiana Talassemie ed Emoglobinopatie (SITE) http://www.site-
italia.org
• UNITED Italian Federation of the Associations for Thalassemia, Sickle Cell Disease and
Rare Anaemias http://www.unitedonlus.org
• Is your country a member of Thalassemia International Federation (TIF)?
• YES,
• Loris Brunetta (patient, UNITED member) is one of Founding member of Thalassemia
International Federation (TIF) in 1987

12. www.humanvariomeproject.org/GG2020
Thanks to my team

13. www.humanvariomeproject.org/GG2020
Thank you from Galliera hospital in Genoa