Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization.
Rare Iron Overloads Except C282Y HomozygosityChronic iron overload is responsible for morbidity and mortality. There are many genetic and acquired causes. One of them is an hepcidin deficiency. Hepcidin is the regulating hormone for iron. The study explores this specific cause, and aim to characterize this iron overload in term of clinical, biological, genetic and functional specificities.
Study of the Effects of Muscular Activity on Iron Metabolism
Iron OverloadIron DeficiencyThe aim of this study is to evaluate the effect of muscular exercise on iron metabolism in healthy volunteers. Fourteen healthy male subjects will have to pedal on an ergocycle for 45 minutes, and urine and blood samples will be collected regularly to measure hemojuvelin, hepcidin, iron and transferrin levels.
Compassionate Use of Deferiprone for Patients With Thalassemia and Iron-Induced Heart Disease
Iron OverloadPatients who have iron overload due to chronic blood transfusions and have developed heart failure or who are at high risk of heart failure because of the high levels of iron in their hearts, will be treated with deferiprone, an investigational drug, in combination with deferoxamine (Desferal). Some studies suggest that deferiprone may be better than deferoxamine in removing iron from the heart and improving heart function, and that using both drugs together may remove more iron. Participants would make a clinic visit for lab studies each week, and would continue to take deferiprone for as long as their physician feels it is useful in their care.
Endocrine Function During Deferasirox Therapy
Iron OverloadTransfusion-dependent Thalassemia1 moreA national survey on the prevalence and natural history of endocrine complications in thalassemia transfusion--dependent patients treated with deferasirox was designed, in order to assess a larger population during a longer follow up and improve the quality of previous investigations.
MRI T2* Mapping of Myocardium, Liver, Pancreas and Pituitary Gland
Iron OverloadAll patients were investigated using a 3T MRI and 1,5 T MRI scanners. For myocardium, pancreas and pituitary gland iron overload quantification in children we have used special sequences for T2*-mapping. Miocardium, pancreas and pituitary gland T2* relaxometry maps were calculated automatically by commertial application ReportCARD Functool (GE Healthcare) and integrated Philips T2* maps. Then for selected ROI T2* data acquisition in milisecond [ms] were performed and calculated automatically.
Non-invasive Quantification of Liver Iron With MRI
Iron OverloadHemosiderosisThe purpose of this study is to validate magnetic resonance imaging as a biomarker of hepatic iron concentration (HIC). Excessive accumulation of iron in the body is highly toxic, specifically in the liver. Accurate, non-invasive assessment of HIC is needed for diagnosis, quantitative staging and treatment monitoring or hepatic iron overload.
Iron Overload and Growth Velocity in Thalassemia and Sickle Cell Anemia
ThalassemiaSickle Cell DiseaseIron overload impaired growth in Thalassemia patients due to iron deposition in the endocrine glands, including the hypophysis and gonads. The issue of iron overload in Sickle Cell Anemia is recently studied more extensively and preliminary studies shows that endocrine damage is rarer in those patients. Growth velocity was not systematically studied in patients with Iron Overload, even in thalassemia patients in spite several studies that assess the endocrine function in those patients. In Sickle Cell Patients this issue was not studied. The purpose of this study is to assess the growth velocity in a cohort of Thalassemia Major and Intermedia patients and compare the results to another group of Sickle Cell patients, including Sickle cell thalassemia.
Iron Overload in Pediatric Oncology Patients
Iron OverloadThe purpose of this study is to evaluate for iron overload in pediatric oncology and transplant patients who have completed their treatment between one to ten years ago.
MR Imaging of Diffuse Myocardial Fibrosis in Transfusion-Dependent Anemias
Thalassemia MajorChronic Blood Transfusion Related Iron OverloadCardiac failure is the major cause of death in patients with thalassemia and chronic blood transfusion-related iron overload. The treatment of thalassemia has been revolutionized over the past decade with the implementation of cardiac MRI based assessment of iron overload. This has enabled detection of cardiac iron overload prior to symptomatic heart failure and now allows for timely therapy which has resulted in a substantial decrease in mortality. However, currently implemented MR imaging techniques assess for iron content only and not for iron related diffuse fibrosis which play a role in iron related heart failure. Histopathologic studies indicate that patients with iron overload have diffuse interstitial fibrosis. Quantitative MR techniques have shown that patients with various cardiomyopathies demonstrate diffuse myocardial fibrosis and that these changes correlate with changes in cardiac function. The investigators propose that quantitative cardiac MRI for assessment of diffuse myocardial fibrosis can further improve our ability to detect early damage to the myocardium and prevent morbidity and mortality from cardiac iron overload. Detection of fibrosis in patients with thalassemia may allow for earlier identification of cardiomyopathy when compared to other techniques in clinical use including T2* analysis. Identification of fibrosis could affect patient management as it would allow for tailoring of iron chelation therapy and may lead to better understanding of the disease processes contributing to heart failure and arrhythmia in these patients.
Retrospective Evaluation of Adult and Pediatric Transfusion-dependent Patients Treated With Deferasirox...
Iron OverloadIron overload is a leading cause of morbidity and mortality in transfusion-dependent patients. Deferasirox is the most promising iron chelator agent in several clinical scenarios. The investigators propose a retrospective study (chart review) to evaluate comprehensive iron overload management in transfusion-dependent patients treated with deferasirox for up to 5-10 years in a real clinical practice setting.