نتایج جستجو برای: beta thalassemia
تعداد نتایج: 193529 فیلتر نتایج به سال:
Mutations producing beta-thalassemia reach individual gene frequencies greater than .01 in malarial-endemic regions because beta-thalassemia trait individuals have increased genetic fitness over that of normal individuals. Exon 3 of the beta-globin gene has been relatively spared as a site of common beta-thalassemia mutations. Frameshifts caused by the loss of a single nucleotide and nonsense m...
Eight thousand seven hundred and thirty-six pregnant women were screened for thalassemia and hemoglobinopathies by mean corpuscular volume less than 80 femtolitres (fl). Three thousand six hundred and seventy women (42%) were MCV less than 80 fl. In this group there were 2,390 women (70%) who had positive Hb typing by high performance liquid chromatography (HPLC) such as beta-thalassemia major,...
We report a retrospective analysis carried out on 23,485 subjects submitted to a screening program from 2000 to 2006. Of these subjects, 3,934 had borderline HbA(2) values from 3.1 to 3.9%; 410 samples, analyzed previously using PCR methods and sequencing because all of these were partners of a carrier of classical beta-thalassemia, were selected for statistical analysis. Of 410 subjects, 94 (2...
In Ontario, Canada, beta-thalassemia is easily detected through measurement of hemoglobin A2, but most laboratories do not do exhaustive DNA investigations for alpha-thalassemia. Therefore, the prevalence of thalassemia in microcytic samples for hemoglobinopathy investigation in Ontario is unknown. To address this, we performed a prospective cohort study in which samples referred for hemoglobin...
Beta thalassemia is an autosomal recessive disorder characterized by reduced (beta(+)) or absent (beta(0)) beta-globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the beta-thalassemia mutations identified in Lebanon, and traced their precise origins. A total of 520 beta-globin chromosomes from ...
One of the genetic features of the Sardinian population is the high prevalence of hemoglobin disorders. It has been estimated that 13% to 33% of Sardinians carry a mutant allele of the alpha-globin gene (alpha-thalassemia trait) and that 6% to 17% are beta-thalassemia carriers. In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) accounts for >95% of beta-thalassemia cas...
Background and Objectives: Beta-thalassemia continues to be a cause of significant burden to the society particularly in the poorer developing countries. Although sophisticated methods of screening have become available, a hunt for a cheap, rapid, objective screening method still remains elusive. Thus, the objectives are to study the validity of Naked-Eye-Single-Tube-Osmotic-Fragility-Test (NES...
Background and Aim: Beta-thalassemia ( -thalassemia) is characterized by the reduced synthesis of the hemoglobin beta chain. Nowadays, more than 200 disease-causing mutations in beta-globin ( -globin) gene have been identified. Betathalassemia is the most common monogenic disease worldwide and one of the widespread hereditary disorders in Iran. Considering the vast spectrum of beta-thalassemia ...
abstract background prevalence of hereditary blood diseases such as sickle cell anemia, sickle thalassemia and thalassemia major are high in khuzestan province. sickle cell anemia and beta-thalassemia are predominantly common in iranian arabs. pulmonary complications account for a large proportion of morbidity and mortality in patients with and sickle cell disease. periodic lung function assess...
Enhanced maturation and proliferation of beta-thalassemia/Hb E erythroid precursor cells in culture.
Upon erythroid cell maturation in vivo, beta-thalassemic erythroid cells accumulate unmatched unstable alpha-globin chains that are believed to be a causal factor in such cell destruction. This study showed that beta-thalassemia/Hb E erythroid precursor cells from peripheral blood had accelerated maturation, and could mature to the terminal erythroid stage. During the early period of cell cultu...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید