Changing patterns of thalassaemia in Italy: a WebThal perspective

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 31^st 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.

Figure 1

Distribution of age of patients with thalassaemia syndromes at 36 treatment centres in Italy

Figure 2

Distribution of age of patients with thalassaemia intermedia at 36 treatment centres in Italy

Figure 3

Distribution of median serum ALT levels during 2017 as reported in 1376 patients with thalassaemia syndromes treated at 11 centres in Italy Dotted line shows upper limit of normal range (10–30 U/L).

Figure 4

Distribution of most recent liver iron concentration as reported in 756 patients with thalassaemia syndromes treated at 11 centres in Italy Last values were recorded up to 31 December 2017. Dotted line shows upper limit of normal range (<2.1 mg/g dry weight).

Figure 5

Distribution of most recent heart T2* measurement as reported in the 756 patients for whom liver iron concentrations were also reported Last values were recorded up to 31 December 2017. Dotted line shows lower limit of normal range (>20 ms).