Active clinical trials for "Thalassemia"

The investigators' primary objective is to study prevalences of myocardial iron overload, defined as a cardiac T2*< 20 ms, in 3 populations of multiply transfused patients, affected with thalassemia, sickle cell disease, and myelodysplasia.

Patients with genetic diseases can have widely differing severities. We are looking for genetic factors which influence the severity of beta thalassemia.

β thalassemia is an autosomal recessive hemoglobinopathy and considered as the most widespread genetic mutation. According to the World Health Organization (WHO) between 1.5-7% of the world population are carriers for this disease, and every year 60,000-400,000 birth of new patients are reported. In Israel, the incidence of carriers for β thalassemia is around 20% among the Jewish from Kurdish origin and around 5-10% among the Arab population. β thalassemia is a severe disease which requires many resources, both medical and financial. The disease is expressed by chronic hemolytic anemia which requires regular blood transfusions every 3 weeks. As a result of the blood transfusions and the iron absorption by the digestive tract, those patients suffer from severe hemosiderosis which is the main mortality cause in the disease, mainly in the second decade for life. Daily treatment with iron chelator is required. Moreover, despite the actual treatment, the quality of life of those patients is still low. Therefore the implementation of a prevention program which includes finding an effective and inexpensive way for identifying the β thalassemia carriers is a humanitary and publicly important goal. In β thalassemia carriers, laboratory tests will show hypochromic microcytic anemia. Those findings are similar in iron deficiency anemia, but the RBC number and the RDW are normal in thalassemia carriers. Few researchers tried in the past to determine cutoff point for diagnosis of β thalassemia carriers by different formulas. We used the algorithm SVM (support vector machine) to find a reliable formula that can separate patients with Iron deficiency anemia/ healthy from patients with β thalassemia minor (carriers). This formula can be inserted to any automatic blood counter and search for suspected carriers without deliberately intention and without any further blood test.

cross sectional study to asses sexual maturation in β-Thalassemia Major patients receiving Iron Chelation Therapy in assuit University Hospital and maintenance of 2ry sexual characters and reproduction

Beta thalassemia (β-thalassemia) is the most common genetic disease worldwide. Individuals with thalassemia are born with a defect in hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen to vital organs such as the brain, heart, lungs and kidneys. Thalassemia major is a hereditary anemia characterized by little or no ß-globin production, which results in hemolysis (breakdown or destruction of red blood cells) due to the formation of unstable alpha-globin tetramers and ineffective erythropoiesis which is uniformly fatal in the absence of regular transfusions. Although improvements in conservative treatment have improved the prognosis of thalassemia considerably disease and transfusion related complications in affected patients progress over time, causing severe morbidity and shortened life expectancy. Substantial lifelong health care expenses are also involved, often a financial burden for families and unsustainable in most developing countries. The hypothesis is that patients who had beta thalassemia who have undergone a hematopoietic stem cell transplant (HSCT) and are >1 year post-HSCT will have less long term comorbidities and a higher quality of life (QOL) as compared to those with beta thalassemia who are maintained on supportive care. In order to assess quality of life, a quality of life questionnaire will be asked. Extraction of data from the patient's medical record will also be used to determine any comorbidities that have occurred after either a HSCT or supportive care therapy.

To assess the possible role of iron overload as a cause of liver dysfunction in thalassemic childrens receiving multiple blood transfusion and its correlation with serum aminotransferases.

β-thalassemia is one of the most common single gene disorder in Southern China. The phenotypic severity of beta thalassemia widely varies from mild to severe forms. Patients with the same beta thalassemia genotype show wide phenotypic variability that ranges from moderate to severe disease due to various genetic modifiers of disease severity. The aim of this study is to looking for the genetic factors which could affect the severity of beta thalassemia.

Regular blood transfusions are essential for the management of haematological conditions such as β-thalassemia major. As a result, however, patients with these conditions are susceptible to the development of transfusion-dependent iron overload (hemosiderosis or secondary iron overload

β-thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. In recent studies done in β-thalassemia major patients abnormal iron deposition was evident using MRI in brain structures, cortex, putamen, and caudate nucleus . In most of the cases the neurological involvement is subclinical. Cognitive functioning was evaluated in beta thalassemia major, compared with healthy controls, using a neuropsychological battery including tests of abstract reasoning, attention, executive functions, language, constructional/visuospatial skills, and memory. Patients with beta thalassemia major, in particular those showing signs of hemosiderosis, had significantly impaired function in all neuropsychological tests. There was no relationship between cognitive performances and signs of deferoxamine toxicity, deferoxamine dosage, and levels of hemoglobin and ferritin. Event-related potentials (ERPs) are one of the most informative and dynamic methods of monitoring the information stream in the living brain. ERPs are linked in time with a physical or mental event, and are typically extracted from the scalp-recorded electroencephalogram (EEG) by means of signal averaging. ERPs have been used in the assessment of cognitive function in several disorders, including anemia and iron deficiency anemia. However, literature regarding cognitive function and ERP activity in thalassemia patients is extremely limited, especially in adults. The purpose of this study is to evaluate the cognitive and brain function in a group of 60 thalassemia patients and compare the results to healthy controls.

Patients with thalassemia intermedia, congenital dyserythropoietic anemia type I , and sideroblastic anemia were found to express very high levels of serum GDF15, and this contributed to the inappropriate suppression of hepcidin with subsequent secondary iron overload.The aim of our present study is to asses the levels of GDF15 and hepcidin in patients with Sickle cell disease and hereditary spherocytosis