نتایج جستجو برای: beta thalassemia

تعداد نتایج: 193529  

Journal: :Pediatric clinics of North America 2008
Melody J Cunningham

beta-Thalassemia, originally named Cooley anemia, is an inherited blood disease. Various types of thalassemia are inherited anemias caused by mutations at the globin gene loci on chromosomes 16 and 11, affecting the production of alpha- or beta-globin protein, respectively. The combination of early diagnosis, improvements in monitoring for organ complications, and advances in supportive care ha...

Background: Beta-thalassemia major is a type of inherited blood disease that results in variable outcomes such as severe anemia due to haemoglobin chains. Recurrent and lifelong blood transfusions as a treatment in beta-thalassemia major disease lead to iron deposition in various organs and cause the failure of multiple organs. Failure of affected organs leads to Body mass index (BMI) abnormali...

Journal: :Thalassemia Reports 2023

Beta thalassemia is an inherited disorder resulting in abnormal or decreased production of hemoglobin, leading to hemolysis and chronic anemia. The long-term complications can affect multiple organ systems, namely the liver, heart, endocrine. Myocardial iron overload a common finding β-thalassemia. As result, different cardiovascular form cardiomyopathy, pulmonary hypertension, arrhythmias, vas...

Journal: :Blood 2004
Vip Viprakasit Voravarn S Tanphaichitr Worrawut Chinchang Pakarat Sangkla Mitchell J Weiss Douglas R Higgs

Although beta thalassemia is considered to be a classic monogenic disease, it is clear that there is considerable clinical variability between patients who inherit identical beta globin gene mutations, suggesting that there may be a variety of genetic determinants influencing different clinical phenotypes. It has been suggested that variations in the structure or amounts of a highly expressed r...

Journal: :Circulation 1999
D T Kremastinos P Flevari M Spyropoulou H Vrettou D Tsiapras C G Stavropoulos-Giokas

BACKGROUND In beta-thalassemia major, heart failure primarily affecting left ventricular systolic function is the most common complication and cause of death. Apart from iron deposition, it has been recently reported that myocarditis might be another contributing factor in the pathogenesis of acute or chronic heart failure, acting possibly through an autoimmune mechanism. In an attempt to asses...

Journal: :Pakistan Journal of Medical and Health Sciences 2023

Background: Disorders with a markedly slowed rate of globin chain synthesis are referred to as thalassemia. Hemoglobinopathy is word used describe diseases that cause structurally aberrant hemoglobin. Iron deficiency seen in beta-thalassemia minor, which may change the typically increased HbA2 levels. According World Health Organization (WHO) statistics, 7% global population carries hemoglobin ...

2017
Behnaz Ansari Mohammad Saadatnia Ali Asghar Okhovat

Background. The mechanism of stroke in beta-thalassemia was reported previously as cardioembolic and hypercoagulable state. However, there is no report of watershed infarct in beta-thalassemia anemia. Method. We present an adult β-thalassemia major patient with manifest asymptomatic chronic left carotid occlusion who suffered watershed infarct. Result. In the presence of asymptomatic chronic le...

2017
Alexandra Agapidou Paul King Cecilia Ng Dimitris A. Tsitsikas

Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable beta globin chains. Several such mutations have been described and in a heterozygous state they may confer a phenotype more severe than that of β thalassemia trait and lead to a clinical syndrome of thalassemia intermedia and its associated complications such as ...

Journal: :Family practice and palliative care 2021

Introduction: Beta-thalassemia is an autosomal recessive disease that occurs as a result of disorder in the (β-globin chains synthesis), and gold standard method for diagnosis genetic mutation analysis. It important to know distribution mutations according regions races. The aim this study document beta-globin gene beta-thalassemia major intermedia patients who were followed treated Sanliurfa p...

2017
Duran Canatan

The concurrence of malaria and hemoglobinopathies, observed in malaria endemic regions, reflects the phenomenon of natural selection. The incidence of alpha and beta Thalassemia is very high at the seaside locations related with malaria in the worldwide. The aim of this study is to investigate the distribution of thalassemia from highland to seaside and show due to malaria hypothesis in Turkey....

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