نتایج جستجو برای: β thalassemia

تعداد نتایج: 195979  

2007
Anju Gupta Swati Sarwai Neelam Pathak Sarita Agarwal Sanjay Gandhi

A total of 124 chromosomes of 64 unrelated Indian βthalassemia and β-thalassemia patients along with their family members were studied for their haplotype pattern and mutations. These included, 35 with βthalassemia major, 4 with thalassemia trait, and 25 with β-thalassemia. Fourteen mutations were detected by PCR and Sequencing. The most common mutation IVS1-5 (G-C) was linked with 8 different ...

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 ...

2012
Zahra Kiani Moghaddam Narges Bayat Sirous Zeinali

Background: The double heterozygous state of α/β thalassemia may alter the hematological indices and modify the phonotype. In addition, definite characterization of co-inheritance of αand β-thalassemia heterozygous carriers may change the process of genetic counseling. Materials and Methods: An Iranian couple with low hematological indices was analyzed for α-globin gene deletions using multiple...

Journal: :middle east journal of cancer 0
mahdi shahriari division of pediatric hematology oncology, department of pediatrics, shiraz university of medical sciences, shiraz, iran hamid-reza alidoost division of pediatric hematology oncology, department of pediatrics, shiraz university of medical sciences, shiraz, iran

background : β-thalassemia trait is one of the most common genetic disorders in mediterranean countries. previous studies have shown that β- thalassemia trait has a protective effect against malaria, coronary artery disease, hypertension and alzheimer disease. we hypothesize that due to the shorter life span of red blood cells and increased hematopoiesis, these patients are at increased risk of...

Background: The double heterozygous state of α/β thalassemia may alter the hematological indices and modify the phonotype. In addion, definite characterizaon of co-inheritance of α- and β-thalassemia heterozygous carriers may change the process of genec counseling. Materials and Methods: An Iranian couple with low hematological indices was analyzed for α-globin gene deleons using mulpl...

2011
Antonio Cao Paolo Moi Renzo Galanello

β-thalassemias are heterogeneous hereditary anemias characterized by a reduced output of β-globin chains. The disease is most frequent in the temperate regions of the world, where it represents an important health problem. In the last decades, several programs, aimed at controlling the birth rate of thalassemia newborns by screening and prenatal diagnosis of populations with high risk of β-thal...

Journal: :The journal of contemporary dental practice 2015
Zafer Ozgur Pektas Secil Cubuk Beyza Kircelli Sina Uckan

AIM The aim of this report is to present the management of the maxillary deformity and subsequent implant therapy of a case with β-thalassemia major. BACKGROUND β-thalassemia is a hematologic disorder that results from the abnormality of the β-globulin chain synthesis. The best known thalassemia-induced dentofacial problem is the maxillary enlargement, and this undesirable growth of maxilla a...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2013
Erik R Anderson Matthew Taylor Xiang Xue Sadeesh K Ramakrishnan Angelical Martin Liwei Xie Bryce X Bredell Sara Gardenghi Stefano Rivella Yatrik M Shah

Several distinct congenital disorders can lead to tissue-iron overload with anemia. Repeated blood transfusions are one of the major causes of iron overload in several of these disorders, including β-thalassemia major, which is characterized by a defective β-globin gene. In this state, hyperabsorption of iron is also observed and can significantly contribute to iron overload. In β-thalassemia i...

Journal: :iranian journal of public health 0
p derakhshandeh-peykar h hourfar m heidari m kheirollahi m miryounesi

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 chro...

Journal: :International Journal of Research in Medical Sciences 2021

Thalassemia is a heterogeneous group of genetic disorder with the defective synthesis one or more globin chains. β-thalassemia global disease high prevalence in Africa, Southeast Asia and Mediterranean countries. In Malaysia, α are commonest. articles that we reviewed, transfusion-dependent highly associated complications related to thalassemia such as cardiovascular disease, endocrine disorder...

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