نتایج جستجو برای: beta thalassemia major

تعداد نتایج: 795743  

Journal: :Haematologica 2010
Isabelle Thuret Corinne Pondarré Anderson Loundou Dominique Steschenko Robert Girot Dora Bachir Christian Rose Vincent Barlogis Jean Donadieu Mariane de Montalembert Isabelle Hagege Brigitte Pegourie Claire Berger Marguerite Micheau Françoise Bernaudin Thierry Leblanc Laurence Lutz Frédéric Galactéros Marie-Claude Siméoni Catherine Badens

BACKGROUND beta-thalassemia is a rare disease in France, encountered mainly in patients originating from Italy and North Africa. In the setting of the recent French plan for rare diseases, a National Registry for thalassemia has been developed since 2005. Epidemiological and clinical data have been collected on living patients with beta-thalassemia major or intermedia, including those who under...

Foroogh sadat Hashemi, Maryam Abolhasani, Seyed Mohammad Hakimi

Introduction and Objective: Zinc as the second trace element of the human body plays an important role in numerous functions. A large number of research studies have showed serum zinc deficiency and excess urinary excretion in patients with major beta thalassemia, but few studies revealed excess urinary zinc excretion in minor b...

Journal: :international journal of pediatrics 0
gholam hasan khodaei health center of khorasan razavi province, mashhad university of medical sciences, mashhad, iran. nasrin farbod health center of khorasan razavi province, mashhad university of medical sciences, mashhad, iran. behjat zarif mashhad university of medical sciences, mashhad, iran. somayeh nateghi mashhad university of medical sciences, mashhad, iran. masumeh saeidi health center of khorasan razavi province, mashhad university of medical sciences, mashhad, iran.

introduction: beta-thalassemia is the most common hereditary disease in iran. more than two million carriers of beta-thalassemia live in iran. since the iranian population is a mixture of different ethnic groups, it is necessary to determine the frequency  in the different parts of the country. materials and methods: this descriptive study is a cross sectional study with helping by professional...

2013
Ali Bay Osman Başpınar Göksel Leblebisatan Ali Seçkin Yalçın Ahmet İrdem

OBJECTIVE Cardiac failure due to iron overload remains the most common cause of death in patients with beta-thalassemia major. This study aimed to evaluate myocardial function in children with beta-thalassemia major using standard echocardiography technique and strain rate imaging. MATERIALS AND METHODS Conventional echocardiographic analysis, tissue velocity imaging, and strain/strain rate i...

2014
Jaivinder Yadav Deepak Sharma Hanish Bajaj Mittal Suman Yadav Sweta Shastri Aakash Pandita

5 year old male child presented with progressive abdominal distention, pallor, and growth failure since the age of 9 months. The foe did not respond to hematinic and required one blood transfusion for anemia. Liver and spleen were enlarged on abdominal exam. Peripheral smear showed features of haemolytic anemia and neonatal red blood cells. HPLC studies of patient revealed that father was a car...

2015
Maliheh NAJAF POUR Majid FARSHDOUSTI HAGH Ali Akbar MOVASAGPOOR AKBARI Abbas Ali HOSEIN POOR FEYZI Majid MALAKI

Thalassemia is the most common single gene disorder around the world (1, 2). This disease is a type of chronic, microcytic and inherited anemia associated with defect in hemoglobin synthesis and reduction in life span of red blood cells (3). Thalassemia is distributed in Mediterranean, Middle East, Arabian Peninsula, Turkey, Iran, India, Burma and Southeast Asia (1). There are two types of thal...

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...

2011
H Galehdari B Salehi M Pedram M Oraki Kohshour

Dear Editor, Beta Thalassemia major is a genetic disease with an autosomal recessive pattern and is differentiated by severe microcytic hypochromic hemolytic anemia with hepatosplenomegaly, ineffective erythropoiesis and bone marrow expansion. The β-globin (HBB) gene coding for β-chain expression is located on a 50 kb globin gene cluster on the short arm of chromosome 11, whose mutation mediate...

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