Hemochromatosis and Iron Overload Screening Study (HEIRS)
Blood DiseaseHemochromatosis1 moreTo determine the prevalence, genetic and environmental determinants, and potential clinical, personal, and societal impact of iron overload and hereditary hemochromatosis, in a multi-center, multiethnic, primary care-based sample of 100,000 adults. The study is conducted by the Division of Epidemiology and Clinical Applications of the NHLBI, the Division of Blood Diseases and Resources of the NHLBI, and the Ethical, Legal, and Social Implications (ELSI) Research Program of the NHGRI.
Statistical Basis for Hemochromatosis Screening
Blood DiseaseHemochromatosisTo determine optimal values for transferrin saturation for use in population screening for hereditary hemochromatosis.
Deferoxamine for the Treatment of Hemochromatosis
Diabetes MellitusHeart Disease2 moreWhen patients receive repeated blood transfusions the level of iron in the patient s blood can rise. When iron is processed in the body a protein known as hemosiderin can begin collecting in the organs. If too much hemosiderin collects in the organs they can begin to malfunction. This condition is called transfusional hemochromatosis. An organ of particular importance in transfusional hemochromatosis is the heart. Patients born with diseases requiring blood transfusions at birth begin to develop heart problems in their teens. These patients typically only live for 17 years. Adults that require transfusions can begin experiencing heart problems after 100-200 units of backed red blood cells. Deferoxamine (Desferal) is a drug that binds to iron and allows it to be excreted from the body. It is the only effective way to remove iron from patients who have been overloaded with iron because of multiple transfusions. Previous studies have lead researchers to believe that deferoxamine, when given as an injection under the skin (subcutaneous), can be delay or prevent heart complications. Researchers plan to continue studying patients receiving deferoxamine as treatment for the prevention of heart complications associated with repeated blood transfusions. In this study researchers will attempt; To determine if deferoxamine, given regularly, can indefinitely prevent the heart, liver, and endocrine complications associated with transfusional hemochromatosis To determine whether heart disease caused by transfusional hemochromatosis can be reversed by intensive treatment with deferoxamine.
Study of the Cellular Diffusion of Tacrolimus Across the Membrane of Mononuclear Cells
HemochromatosisPharmacokinetics of tacrolimus are highly variable and may result in graft rejection (underdosing) or toxicity (overdosing). The risk of transplant rejection and the toxicity of tacrolimus can be reduced by pharmacological therapeutic monitoring of the molecule, based on the measurement of residual blood concentrations. Nevertheless, some patients are victims of rejections or toxic signs even though their blood concentrations are in the therapeutic target. The aim of the study is to describe the pharmacokinetics of tacrolimus diffusion in mononuclear cells as well as the kinetics of effect of the drug on its target protein
Observation of Patients With Transfusional Hemosiderosis Treatment With Deferasirox
Transfusional HemosiderosisThis study will observe patients with transfusional hemosiderosis treated with deferasirox in actual practice setting.
Pharmacogenetic Study in Patients Received Iron Chelating Agent
HemosiderosisTo investigate effect of genetic variations on the toxicities and find optimal target population, the investigators planned to analyze the genetic polymorphisms of UDP-glucuronosyltransferase.
Iron Overload in African Americans
HemochromatosisIron OverloadIron overload (hemochromatosis) is a condition which causes the intestines to take too much iron into the body from food or pills. The extra iron can build up in the liver, heart, joints, pancreas, sex organs, and other organs. Patients with iron overload can feel well initially, but the iron will eventually damage organs and may lead to an early death. The condition is believed to be passed down from generation to generation. Many studies have been conducted on the condition as it affects Caucasian Americans, few have addressed the condition in African Americans. Researchers believe it is important to find out as much as possible about the iron overload in African Americans. The goal of this study is to determine the pattern of inheritance of primary iron overload in African American families and to identify the genetic defect causing the condition. The study will use various tests from simple blood testing (transferritin saturation and serum ferritin levels) to complex genetic tests (segregation analysis and polymerase chain reaction [PCR]). The tests will help researchers deterimine iron levels in the blood, presence of antigens that may help trace inheritance, and detect changes in genes that are known to cause iron overload in Caucasians. The study may not directly benefit the patients participating in it. However, this study may lead to improved methods to diagnose iron overload in the African American population as a whole.
Florbetaben as an Amyloid Plaque Marker in Elderly Patients With Focal or Disseminated Superficial...
Amyloid Cerebral AngiopathyAlzheimer DiseaseThe main objective of this study is to compare the distribution of Florbetaben (NEURACEQ: FBB) in the brain in amyloid cerebral angiopathy (ACA) manifested by isolated hemosiderosis in non-demented patients with that observed in healthy subjects, patients with ACA and with lobar hematoma(s) and patients with Alzheimer's dementia without MRI signs in favor of ACA.
Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration
HemochromatosisThe purpose of this study is to determine if a new MR pulse sequence is accurate in determining how much iron is in the liver.
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.