Filomena Longo1, Paola Corrieri1, Raffaella Origa2, Susanna Barella2, Paola M G Sanna3, Pier P Bitti4, Angelo Zuccarelli5, Francesca V Commendatore6, Angelantonio Vitucci7, Antonella Quarta8, Roberto Lisi9, Maria D Cappellini10, Francesco Massei11, Gian L Forni12, Antonio Piga1. 1. Reference Centre for Haemoglobinopathies, Department of Clinical and Biological Sciences, University of Turin, Orbassano, Italy. 2. Thalassaemia Unit, "Antonio Cao" Paediatric-Hospital, AO Brotzu, Cagliari, Italy. 3. Immunohaematology and Transfusion Medicine Service, AOU Sassari, Sassari, Italy. 4. Immunohaematology and Transfusion Medicine Service, ATS ASSL Nuoro, Nuoro, Italy. 5. Immunohaematology and Transfusion Medicine Service, ATS ASSL Carbonia, Carbonia, Italy. 6. Thalassaemia Unit, Lentini ASP 8 Siracusa, Siracusa, Italy. 7. Haematology with Transplant Unit, Az. Universitario-Ospedaliera Consorziale Policlinico, Bari, Italy. 8. Microcythemia Center, Haematology with Transplant Unit, "A. Perrino" Hospital, Brindisi, Italy. 9. Thalassaemia Unit, ARNAS "Garibaldi", Catania, Italy. 10. Ca' Granda Foundation IRCCS, Dept. of Clinical Science and Community, University of Milan, Milan, Italy. 11. Paediatric-Oncohaematology Unit, "Santa Chiara" Hospital, Pisa, Italy. 12. Center for Microcythemia, Congenital Anaemia and Iron Dysmetabolism, European Reference Networks for Rare Diseases ERN-EuroBloodNet, "Galliera" Hospital, Genoa, Italy.
Abstract
BACKGROUND: Migration has impacted the spread of thalassaemia which is gradually becoming a global health problem. Italy, with an approximate estimation of 7,000 patients, does not have an accurate national record for haemoglobinopathies. This cross-sectional evaluation includes data for approximately 50% of beta-thalassaemia patients in Italy to provide an overview of the burden of thalassaemia syndromes. MATERIALS AND METHODS: The analysis included data on epidemiology, transfusions and clinical parameters from 3,986 thalassaemia patients treated at 36 centres in Italy who were alive on 31st December 2017. The study used WebThal, a computerised clinical record that is completely free-of-charge and that does not have any mandatory fields to be filled. RESULTS: For patients with thalassaemia major, 68% were aged ≥35 years and 11% were aged ≤18 years. Patients with thalassaemia intermedia were slightly older. Transfusion data, reported in a subgroup of 1,162 patients, showed 9% had pre-transfusion haemoglobin <9 g/dL, 63% had levels between ≥9 and <10 g/dL, and 28% had levels ≥10 g/dL. These 1,162 patients underwent 22,272 transfusion days during 2017, with a mean of 19 transfusion days/year/patient (range 1-54 days). Severity of iron overload was reported in 756 patients; many had moderate or mild liver iron load (74% had liver iron <7.5 mg/g dry weight). In the same cohort, 85% of patients had no signs of cardiac iron load (MRT2* >20 ms), and only 3% showed signs of high-risk heart condition (T2* <10 ms). Most patients had normal alanine amino transferase levels due to treatment with the new anti-hepatitis C virus (HCV) drugs. DISCUSSION: This study provides an overview of the current health status of patients with thalassaemia in Italy. Moreover, these data support the need for a national comprehensive thalassaemia registry.
BACKGROUND: Migration has impacted the spread of thalassaemia which is gradually becoming a global health problem. Italy, with an approximate estimation of 7,000 patients, does not have an accurate national record for haemoglobinopathies. This cross-sectional evaluation includes data for approximately 50% of beta-thalassaemiapatients in Italy to provide an overview of the burden of thalassaemia syndromes. MATERIALS AND METHODS: The analysis included data on epidemiology, transfusions and clinical parameters from 3,986 thalassaemia patients treated at 36 centres in Italy who were alive on 31st December 2017. The study used WebThal, a computerised clinical record that is completely free-of-charge and that does not have any mandatory fields to be filled. RESULTS: For patients with thalassaemia major, 68% were aged ≥35 years and 11% were aged ≤18 years. Patients with thalassaemia intermedia were slightly older. Transfusion data, reported in a subgroup of 1,162 patients, showed 9% had pre-transfusion haemoglobin <9 g/dL, 63% had levels between ≥9 and <10 g/dL, and 28% had levels ≥10 g/dL. These 1,162 patients underwent 22,272 transfusion days during 2017, with a mean of 19 transfusion days/year/patient (range 1-54 days). Severity of iron overload was reported in 756 patients; many had moderate or mild liver iron load (74% had liver iron <7.5 mg/g dry weight). In the same cohort, 85% of patients had no signs of cardiac iron load (MRT2* >20 ms), and only 3% showed signs of high-risk heart condition (T2* <10 ms). Most patients had normal alanine amino transferase levels due to treatment with the new anti-hepatitis C virus (HCV) drugs. DISCUSSION: This study provides an overview of the current health status of patients with thalassaemia in Italy. Moreover, these data support the need for a national comprehensive thalassaemia registry.
Authors: Umberto Barbero; Matteo Ajassa; Carmen Maria Gaglioti; Antonio Piga; Giovanni Battista Ferrero; Filomena Longo Journal: J Cardiovasc Dev Dis Date: 2021-12-21