Active clinical trials for "beta-Thalassemia"

Hypercoagulable state is well recognized in patients with β-thalassemia. Evidences of hypercoagulability include abnormal expression of phosphatidylserine on red blood cell (rbc) surface and consequent increased platelet activation and thrombin generation. In addition, a reduction of anticoagulants i.e. proteins C and S and antithrombin (AT) was demonstrated. However, coagulable state in patients with β-thalassemia following stem cell transplantation (SCT) has not been characterized.

Thalassemia is different in kids with microcytic hypochromic anemia than general population because there is a confusion between symptoms of thalassemia and iron deficiency anemia in kids and both of them differ in management and prognosis. otherwise the most commonest causes of microcytic hypochromic anemia in kids are iron deficiency anemia and thalassemia and both of them are more common in kids than in general population. Thalassemia is different in Egypt than anywhere in the world because there is no accurate estimation of incidence and prevalence of such dangerous disease in Egypt inspite of many cases attending thalassemia center (hundreds) and this disease is autosomal recessive and its incidence can be minimized by detection of carrier cases by gene study hopping that to be done as a routine premarital investigation.

Thalassemia is a blood disorder passed down through families in which the body makes an abnormal form of hemoglobin. There are 2 main types of thalassemia; Alpha & Beta thalassemia. Alpha thalassemia: occurs when a gene or genes related to the alpha globin protein are missing or mutated. Beta-thalassemia syndromes are a group of hereditary blood disorders characterized by reduced or absent beta globin chain synthesis. Beta-thalassemias can be classified into: Silent carrier: completely asymptomatic with normal hematological parameters. Beta-thalassaemia minor (beta-thalassaemia trait): usually asymptomatic; diagnosis is made during a work-up for mild anemia. Beta-thalassaemia intermedia: usually a similar presentation to beta-thalassaemia major; symptoms are usually less pronounced and the course is usually more insidious. Beta-thalassaemia major : In which there is complete absence of hemoglobin A

This is a multi-site, prospective, observational study implemented in β-thalassemia treatment centers from 5 countries (Italy, Turkey, Greece, Lebanon, and Thailand). Approximately one to two study sites will be identified per country and approximately 20 β-thalassemia subjects will be enrolled per country (10 transfusion dependent (TD) and 10 Non-transfusion dependent (NTD) with a total of approximately 100 subjects. This study will not interfere with or influence the routine clinical management of β-thalassemia patients. Outcomes of interest will be collected prospectively for up to 6 months.

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.