نتایج جستجو برای: beta thalassemia minor
تعداد نتایج: 273056 فیلتر نتایج به سال:
OBJECTIVE Thalassemia is one of the most common genetic disorders worldwide. Cap +1 mutation which causes 'silent beta thalassemia' is present around all ethnic groups of Pakistan. This study was designed to detect the frequency of Cap+1 mutation in Pakistani Population. METHODS Molecular genetic for Cap+1 beta thalassemic mutation was done by extracting DNA from whole blood by using Genomic ...
BACKGROUND AND OBJECTIVES Gallstones are a frequent complication of hemolytic anemias. The association with the mutation of the A(TA)nTAA motif of the promoter of the bilirubin UDP-glucuronosyltransferase gene has also been reported to increase the risk of gallstones. We studied the prevalence of cholelithiasis in thalassemia minor and the role of the Gilbert mutation. DESIGN AND METHODS A gr...
BACKGROUND β-thalassemia is the most common monogenic disorder in Iran, and one of the challenges in the screening of the carriers is the coinheritance of α-thalassemia mutations. In the view of high prevalence of α-thalassemia mutations in many parts of the country, the aim of this study was to determine the carrier frequency of common alpha deletions, as a secondary modifier in clinical manif...
Background and purpose : Beta thalassemia is the most common genetic disease in the world. Ït has a high prevalence in Ïran and in Mazandaran province in particular. Hence, it is of the first priority of preventing programs of non-communicable diseases. The main preventing measures are proziding appropriate information for public nad professionals, Screening and conceating of at risk families...
Background & objective: β-Thalassemia minor is an asymptomatic hereditary disease. The first study on the relation of renal tubular dysfunction and β-thalassemia minor was performed in 2002 but those studies seem inadequate.The main goal of this study is through evaluation of renal tubular function in 100 patients with thalassemia minor. Materials & Methods: 100 patients with β- thalassemia...
Beta-thalassemia intermedia (β-TI) is a genetic variant of beta-thalassemias with a clinical disorder whose severity falls between thalassemia minor and thalassemia major. Different genetic defects are involved in this disorder and, based on severity of disease, clinical complications like skeletal deformities and growth retardation, splenomegaly, extramedullary hematopoiesis, heart failure, an...
Beta-thalassemia is due to a defect in the synthesis of the beta-globin chains, leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. The spectrum of thalassemias is wide, with one end comprising thalassemia minor, which consists of a mild hypochromic microcytic anemia with no obvious clinical manifestations, while on the other end is thalassemia major, characterized ...
OBJECTIVE To assess the relationship between being beta globin gene carrier and developing insulin resistance. METHODS This study was conducted on 164 subjects including 82 healthy ones and 82 patients with beta thalassemia minor (microcytosis (MCV <80 fl) and hypochromia (MCH <25 pg) and HbA2 ≥ 3.5% using HPLC). Fasting blood glucose (FBS) values of 100-125 mg/dl were considered as impaired ...
Objectives: Hemoglobin E disease, c.26G>A variant of beta-globin gene, is the most common hemoglobinopathy in Asia. Compound heterozygotes inheriting Hb disease and beta-thalassemia generate beta-thalassemia-Hb with severe anemia. This study aimed to develop a pre-implantation genetic testing for monogenic disorders (PGT-M) protocol beta–thalassemia (c.17A>T mutation)-Hb (c.26G>A mutat...
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