Most deaths in beta-thalassemia major result from cardiac complications due to iron overload. Differential effects on myocardial siderosis may exist between different chelators. A randomized controlled trial was performed in 61 patients previously maintained on subcutaneous deferoxamine. The primary end point was the change in myocardial siderosis (myocardial T2*) over 1 year in patients maintained on subcutaneous deferoxamine or those switched to oral deferiprone monotherapy. The dose of deferiprone was 92 mg/kg/d and deferoxamine was 43 mg/kg for 5.7 d/wk. Compliance was 94% ؎ 5.3% and 93% ؎ 9.7% (P ‫؍‬ .81), respectively. The improvement in myocardial T2* was significantly greater for deferiprone than deferoxamine (27% vs 13%; P ‫؍‬ .023). Left ventricular ejection fraction increased significantly more in the deferipronetreated group (3.1% vs 0.3% absolute units; P ‫؍‬ .003). The changes in liver iron level (؊0.93 mg/g dry weight vs ؊1.54 mg/g dry weight; P ‫؍‬ .40) and serum ferritin level (؊181 g/L vs ؊466 g/L; P ‫؍‬ .16), respectively, were not significantly different between groups. The most frequent adverse events were transient gastrointestinal symptoms for deferipronetreated patients and local reactions at the infusion site for deferoxamine. There were no episodes of agranulocytosis. Deferiprone monotherapy was significantly more effective than deferoxamine over 1 year in improving asymptomatic myocardial siderosis in beta-thalassemia major. (Blood. 2006;107: 3738-3744)

Cardiac complications in 110 patients (mean age, 32.5 ؎ 11.4 years) with thalassemia intermedia (TI) were studied. Sixtyseven (60.9%) of them had not been transfused or were minimally transfused (group A). The rest had started transfusions after the age of 5 years (mean, 15.1 ؎ 10.1 years), initially on demand and later more frequently (group B). Overall mean hemoglobin and ferritin levels were 9.1 ؎ 1.1 g/dL and 1657 ؎ 1477 ng/mL, respectively. Seventy-six healthy controls were also studied. The investigation included thorough history taking, clinical examination, electrocardiography, chest radiograph, and full resting echocardiography. Of 110 patients, 6 (5.4%) had congestive heart failure (CHF), and 9 (8.1%) had a history of acute pericarditis. Echocardiography showed pericardial thickening, with or without effusion, in 34.5% of the patients.

Strict lifelong adherence to the standard transfusion and deferoxamine therapy reduces considerably the occurrence of heart failure, LV dysfunction and pericarditis, prevents early heart failure and pulmonary hypertension, but does not eliminate completely cardiac disease in patients with thalassemia major.

Recent advances in magnetic resonance imaging (MRI) techniques allow the assessment of iron overload in tissues 1 especially the heart, 2 in transfusion-dependent thalassemia patients. The R2* value (1/T2*) recorded in the intraventricular septum of the heart indirectly measures the degree of cardiac iron load. Applying this new technology we looked at a number of historical and biochemical parameters in order to determine their relationship to cardiac iron overload and the effect of cardiac iron on functional and structural changes of the heart in transfusion-dependent thalassemics. Haematologica 2007; 92:131-132

Haemoglobinopathies are the most common hereditary disorders in Greece. Although there is a successful national prevention program, established 35 years ago, there is lack of an official registry and collection of epidemiological data for haemoglobinopathies. This paper reports the results of the first National Registry for Haemoglobinopathies in Greece (NRHG), recently organized by the Greek Society of Haematology. NRHG records all patients affected by thalassaemia major (TM), thalassaemia intermedia (TI), "H" Haemoglobinopathy (HH) and sickle cell disease (SCD). Moreover, data about the annual rate of new affected births along with deaths, between 2000 and 2010, are reported. A total of 4,506 patients are registered all over the country while the number of affected newborns was significantly decreased during the last 3 years. Main causes for still having affected births are: (1) lack of medical care due to financial reasons or low educational level; (2) unawareness of time limitations for prenatal diagnosis (PD); due either to obstetricians' malpractice or to delayed demand of medical care of couples at risk; and (3) religious, social or bioethical reasons. Cardiac and liver disorders consist main causes for deaths while life expectancy of patients lengthened after 2005 (p < 0.01). The NRHG of patients affected by haemoglobinopathies in Greece provides useful data about the haemoglobinopathies in the Greek population and confirms the efficacy of the National Thalassaemia Prevention Program on impressively decreasing the incidence of TM and sickle cell syndromes.

In transfusion-dependent thalassemia major, iron-induced cardiomyopathy is the predominant cause of morbidity and mortality. Assessment of myocardial iron loading using MRI gradient echo T2* measurements have been described, but has only been performed at one centre in London. We assessed the transferability of this method by comparing the results from three different MR scanners in three different countries. Ten patients with thalassemia major underwent myocardial T2* assessment using a Siemens Sonata Scanner in London. Patients were also scanned with either a similar T2* sequence on a GE Systems CVI scanner in Athens, or a GE Systems signa echospeed scanner in Cagliari. Two scans were performed at the respective site in all patients to assess interstudy reproducibility at each site. The mean difference and coefficient of variability for the heart between scanners was 0.08 ms and 9.7% between London and Athens; and 0.30 ms and 1.6% between London and Cagliari. The interstudy mean difference and coefficient of variability for the heart in Athens was 0.6 ms and 3.5%, and 0.2 ms and 2.4% in Cagliari. In conclusion, the myocardial iron estimations were consistent between the three centres with scanners of differing manufacture, suggesting that this technique may have widespread application in the assessment of patients with iron overload conditions such as thalassaemia.

Heart T2 relaxation time appears in agreement with cardiac biopsy, both in high and low iron deposition, and may become a useful non-invasive index in beta-thalassemia.

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