Vassilis Ladis

International survey of T2* cardiovascular magnetic resonance in β-thalassemia major

Accumulation of myocardial iron is the cause of heart failure and early death in most transfused thalassemia major patients. T2* cardiovascular magnetic resonance provides calibrated, reproducible measurements of myocardial iron. However, there are few data regarding myocardial iron loading and its relation to outcome across the world. A survey is reported of 3,095 patients in 27 worldwide centers using T2* cardiovascular magnetic resonance. Data on baseline T2* and numbers of patients with symptoms of heart failure at first scan (defined as symptoms and signs of heart failure with objective evidence of left ventricular dysfunction) were requested together with more detailed information about patients who subsequently developed heart failure or died. At first scan, 20.6% had severe myocardial iron (T2*≤10ms), 22.8% had moderate myocardial iron (T2* 10–20ms) and 56.6% of patients had no iron loading (T2*>20ms). There was significant geographical variation in myocardial iron loading (24.8–52.6%; P<0.001). At first scan, 85 (2.9%) of 2,915 patients were reported to have heart failure (81.2% had T2* <10ms; 98.8% had T2* <20ms). During follow up, 108 (3.8%) of 2,830 patients developed new heart failure. Of these, T2* at first scan had been less than 10ms in 96.3% and less than 20ms in 100%. There were 35 (1.1%) cardiac deaths. Of these patients, myocardial T2* at first scan had been less than 10ms in 85.7% and less than 20ms in 97.1%. Therefore, in this worldwide cohort of thalassemia major patients, over 43% had moderate/severe myocardial iron loading with significant geographical differences, and myocardial T2* values less than 10ms were strongly associated with heart failure and death.

Survival in a large cohort of Greek patients with transfusion‐dependent beta thalassaemia and mortality ratios compared to the general population

Background:  With transfusions and chelation therapy, the prognosis for transfusion‐dependent beta thalassaemia has changed from being fatal in early childhood to a chronic disorder with prolonged survival.

Impact of magnetic resonance imaging on cardiac mortality in thalassemia major

To evaluate whether the introduction of magnetic resonance imaging (MRI) in the management of thalassemia major (TM) patients has affected the risk of cardiac death.

A Rare Thalassemic Syndrome Caused by Interaction of Hb Adana [α59(E8)Gly→Asp] with an α+-Thalassemia Deletion: Clinical Aspects in Two Cases

Hb Adana is a highly unstable and rare α-globin hemoglobin (Hb) variant, to date described in only three families, in interaction with other α-thalassemia (α-thal) deletions. We describe the clinical and hematological findings in two cases from independent families of Albanian origin, who have an interaction of the codon 59 (Gly→Asp) α2-globin gene variant in trans to a 3.7 kb α+-thal deletion (αcodon 59α/−α). We report their presenting symptoms and laboratory findings as well as complications and differences in their clinical management. Both cases can be characterized as thalassemia intermedia and illustrate the problems associated with selecting the most appropriate options for patient management, especially in cases with rare underlying genotypes.

The Impact of Neocyte Transfusion in the Management of Thalassaemia

Transfusional iron overload leading to cardiopathy and other severe complications continues to be a major problem in chronically transfused homozygous β‐thalassaemia patients. It is well known that young red cells (neocytes) survive longer after transfusion and therefore may contribute to the extension of the intervals between transfusions. We evaluated the impact of neocytes in the total annual blood requirements and consequently the transfusional iron load in 18 thalassaemia patients. A two‐period study comparing transfusions of standard red cells versus neocytes in the same group of patients was performed. Neocytes were harvested by density separation using the Neocel®System. The method of preparation was simple with relatively low costs and required no special equipment. There was a significant difference (p <0.005) in PK and MCV values of the neocyte and older red cell (gerocyte) fractions indicating that a good separation of the two populations was achieved. All patients had a reduction in blood requirements during the neocyte period. The total annually transfused red blood cells and concomitant iron blood load were significantly reduced (p <0.001) by 20.2±9.1%. However, the response was variable. Seven of the 18 patients had a large reduction in blood consumption (24.8–34.8%), 9 others ranged between 10.7 and 21.6%, and in 2 the reduction was less than 10%. This reduction in blood requirements and in the transfused iron may change the chelation index resulting in more efficient iron chelation therapy and perhaps reduce the cost of the haemochromatosis therapy on a long‐term basis. We conclude that the use of neocyte therapy using this system can benefit the majority of chronically transfused patients by reducing transfusional iron overload and related complications and may lead to a much better quality of life.

Thirty-year experience in preventing haemoglobinopathies in Greece: achievements and potentials for optimisation.

Beta thalassaemia major (β‐TM) and sickle‐cell disease (SCD) are severe haemogobinopathies requiring life‐lasting, advanced medical management. In the Mediterranean region, both conditions occur with high frequency. We assessed the efficacy of the National Program for the Prevention of Haemoglobinopathies in Greece during the last 30 yrs.