• Publications
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A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia.
A comparative phase 3 trial was conducted to demonstrate the efficacy of deferasirox in regularly transfused patients with beta-thalassemia aged 2 years or older, and found it to be a promising once-daily oral therapy for the treatment of transfusional iron overload.
Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic myocardial siderosis.
Deferiprone monotherapy was significantly more effective than deferoxamine over 1 year in improving asymptomatic myocardial siderosis in beta-thalassemia major.
Seventy-five genetic loci influencing the human red blood cell
A genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals identifies 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10−8, which together explain 4–9% of the phenotypic variance per trait.
Prognosis for individuals with beta-thalassemia has improved substantially in the last 20 years following recent medical advances in transfusion, iron chelation and bone marrow transplantation therapy, however, cardiac disease remains the main cause of death in patients with iron overload.
Safety and effectiveness of long-term therapy with the oral iron chelator deferiprone.
The results of this study help to define the safety and effectiveness of long-term therapy with deferiprone, as well as identify a safe, orally active iron chelator for patients receiving regular red cell transfusions.
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia
  • M. Uda, R. Galanello, +27 authors A. Cao
  • Biology, Medicine
    Proceedings of the National Academy of Sciences
  • 5 February 2008
It is indicated that BCL11A variants, by modulating HbF levels, act as an important ameliorating factor of the β-thalassemia phenotype, and it is likely they could helpAmeliorate other hemoglobin disorders.
On T2* Magnetic Resonance and Cardiac Iron
Iron distribution throughout the heart showed no systematic variation between segments, but epicardial iron concentration was higher than in the endocardium, indicating that the heart is more sensitive to iron loading than the liver.
Healing of broken human chromosomes by the addition of telomeric repeats.
It is suggested that chromosome-healing events in man can be mediated by telomerase and that a small region of complementarity to the RNA template of telomersase at the end of a broken chromosome may be sufficient to prime healing in vivo.
Cardiovascular function and treatment in β-thalassemia major: a consensus statement from the American Heart Association.
An expert consensus is reported on the diagnosis and treatment of cardiac dysfunction in β-thalassemia major (TM), which does not cover other hemoglobinopathies, including thalassemia intermedia and sickle cell anemia, in which a different spectrum of cardiovascular complications is typical.
A Randomized, Placebo-Controlled, Double-Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance
In comparison to the standard chelation monotherapy of deferoxamine, combination treatment with additional deferiprone reduced myocardial iron and improved the ejection fraction and endothelial function in thalassemia major patients with mild to moderate cardiac iron loading.