نتایج جستجو برای: β thalassemia
تعداد نتایج: 195979 فیلتر نتایج به سال:
INTRODUCTION β-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey and in this retrospective study our aim was to determine the frequency of β-thalassemia and hemoglobinopathies in Adana, which is one of the biggest cities located in the southern part of Turkey. MATERIAL AND METHODS Data from 3000 individuals admitted to Seyhan Hereditary Blood Disorders Center in Adana ...
There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Ir...
background: β-thalassemia as a hereditary disease is defined as defective synthesis of β-globin chains, resulting in erythropoiesis abnormalities and severe anemia. different studies have shown that cytokines and cytokine gene polymorphisms play a major role in the pathogenesis of β-thalassemia. single nucleotide polymorphisms (snps) within the promoter region or other regulatory sequences ...
abstract objective cardiac dysfunction is a major cause of death in patients with beta thalassemia. in these patients, repeated blood transfusion, ineffective erythropoiesis and increased gastrointestinal iron absorption lead to iron overload in the body and this induced heart failure. left ventricular ejection fraction was measured in major beta thalassemia (β-th) patients to detect the relati...
Background Fetal hemoglobin (HbF; α2γ2) is a potent genetic modifier of the severity of β-thalassemia and sickle cell anemia. Differences in the levels of HbF that persist into adulthood affect the severity of sickle cell disease and the β-thalassemia syndromes. Sry type HMG box (SOX6) is a potent silencer of HbF. Here, we reactivated γ-globin expression by downregulating SOX6 to alleviate anem...
β-thalassemia is a worldwide distributed monogenic red cell disorder, characterized by the absence or reduced β -globin chain synthesis. Despite the extensive knowledge of the molecular defects causing β-thalassemia, less is known about the mechanisms responsible for the associated ineffective erythropoiesis and reduced red cell survival, which sustain anemia of β-thalassemia. The unbalance of ...
Background: β-thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta globin genes. The aim of the present study was to identify the distribution and frequency of the most common β-thalassemia mutations among the population of Isfahan Province in central Iran. Methods: The data presented here were derived from a total of 114 β-thalassemia chromos...
Thalassemia can lead to severe transfusion-dependent anemia, and it is the most common genetic disorder in Malaysia. This paper aims to determine the prevalence of thalassemia in the Kadazandusuns, the largest indigenous group in Sabah, East Malaysia. α- and β-thalassemia were confirmed in 33.6% and 12.8%, of the individuals studied respectively. The high prevalence of α- and β-thalassemia in t...
OBJECTIVE To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province. METHODS A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters. RESULTS A high prevalence of α- and β-globin gene mutations was found. Overall, 17.70% of pregnant women, 15.94% of their husbands,...
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