نتایج جستجو برای: β thalassemia

تعداد نتایج: 195979  

Introduction: One of the most common types of anemia is Iron deficiency anemia that its main differential diagnosis is β-thalassemia minor. The rapid and accurate screening of β-thalassemia minor has particular importance for pre-marriage medical counseling and the prevention of the birth of neonates with β-thalassemia major and differentiating it from iron deficiency anemia to avoid unnecessar...

  Background and purpose: Thalassemia is a preventable genetic disorder that is a major health problem. It is now two decades since implementation of the national program for preventing β-thalassemia major in Iran. This study was conducted to compare the costs and results of this program from 2010 to 2014 in Mazandaran University of Medical Sciences. Materials and methods: Economic evaluation...

Journal: :international journal of pediatrics 0
hassan mahmoodi nesheli pediatric hematologist oncologist and bmt flowship non-communicable pediatrics diseases research center, babol university of medical sciences, babol, iran.

introduction: the thalassamias refer to a diverse group of hemoglobin disorders characterized by a reduced synthesis of  one or more of globin chains (α,β, γ, δβ,γδβ, δ and εγδβ).the main cure available today for thalassamia is bone marrow transplantation (bmt)  from compatible donor.on december 3, 1981 a 14-month-old child with β-thalassemia major recieved bmt from his hla-identical sister in ...

2017
Giulia Breveglieri Anna Travan Elisabetta D'Aversa Lucia Carmela Cosenza Patrizia Pellegatti Giovanni Guerra Roberto Gambari Monica Borgatti

The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+IVSI-110, β+IVSI-6 and β0IVSI-1. Several molecular techniques for the detection of point mutations have been developed based on the amplification o...

Journal: :Haematologica 2012
Fabrice Danjou Franco Anni Lucia Perseu Stefania Satta Carlo Dessì Maria Eliana Lai Paolo Fortina Marcella Devoto Renzo Galanello

BACKGROUND The clinical and hematologic features of β-thalassemia are modulated by different factors, resulting in a wide range of clinical severity. The main factors are the type of disease-causing mutation and the ability to produce α-globin and γ-globin chains. In the present study we investigated the respective contributions of known modifiers to the prediction of the clinical severity of β...

Journal: :International Journal of Hematology 2021

This study investigated prenatal diagnosis of α-thalassemia and β-thalassemia in 3049 families 18 regions Hainan Province. Molecular was performed couples with thalassemia Genomic DNA extracted from peripheral blood the villus, amniotic fluid, or cord fetuses. DNA-based using polymerase chain reaction. The most commonly detected mutation for was− SEA/αα (31.53%), followed by − α4.2/αα (11.15%) ...

2017
Vincenzo De Sanctis Christos Kattamis Duran Canatan Ashraf T. Soliman Heba Elsedfy Mehran Karimi Shahina Daar Yasser Wali Mohamed Yassin Nada Soliman Praveen Sobti Soad Al Jaouni Mohamed El Kholy Bernadette Fiscina Michael Angastiniotis

BACKGROUND Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. β-thalassaemia is characterised by the reduced synthesis (β+) or absence (βo) of the β-globin chains in the HbA molecule, resulting in accumulation of excess unbound α-globin chains that precipitate in erythroid ...

Journal: :iranian journal of blood and cancer 0
majid naderi zahra zakeri akbar dorgalaleh shaban alizadeh shadi tabibian taregh bamedi

background: β-thalassemia major is a hereditary life threatening anemia which requires regular blood transfusion. clinical symptoms of the disease are growth retardation, pallor, jaundice and skeletal alternations. the variety of bone disease in thalassemia major is manifested by diffuse bone pain or deformity, spontaneous and pathologic fractures and osteopenia or osteoporosis. this study aime...

Ali Akbar Amirzargar, Ardeshir Ghavamzadeh Batoul Moradi Behrouz Nikbin, Bita Ansaripour Farideh Khosravi Kamran Alimoghadam Morteza Bagheri

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 ...

2016
Iman M. Talaat Naglaa M. Kamal Ebtessam H.K. El Melegy Hamed A. Alghamdi Mohammed F. Aljabri Enas A.A. Abdallah Mohammed Sarar Mohamed A. Alshahrani

BACKGROUND Pantothenate kinase-associated neurodegeneration (PKAN), sickle cell anemia, and thalassemia are autosomal recessive disorders that can cause iron deposition in tissues during childhood. PKAN is characterized by accumulation of iron in the basal ganglia causing progressive extrapyramidal manifestations. Thalassemia and sickle cell disease can cause iron overload and deposition in tis...

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