نتایج جستجو برای: thalassemia carrier rate

تعداد نتایج: 1042539  

2016
George Hahalis Evangelia Zacharioglou Ioanna Xanthopoulou Ioanna Koniari Chistina Kalogeropoulou Irene Tsota Aspasia Rigopoulou Athanasios Diamantopoulos Vasilios Gkizas Periklis Davlouros Karolina Akinosoglou Marianna Leopoulou Charalampos Gogos Dimitrios Alexopoulos

BACKGROUND Thalassemic patients demonstrate an increased rate of extracardiac vascular complications and increased carotid wall intima-media thickness (cIMT), but very low prevalence of coronary artery disease (CAD). We investigated the atheroma burden by assessing the coronary artery calcium (CAC) and cIMT in these patients. METHODS We examined 37 patients with β-thalassemia and 150 healthy ...

Journal: :Orphanet Journal of Rare Diseases 2021

Abstract Background Thalassaemia, a hereditary haemoglobin disorder, is major public health concern in some parts of the world. Although Bangladesh world’s thalassaemia belt, information on this disease scarce. Additionally, awareness life threatening, but potentially preventable surprisingly poor. However, mass pivotal for development an effective preventive strategy. In context, understanding...

2017
Jafar Hassanzadeh Alireza Mirahmadizadeh Mehran Karimi Yousef Veisani Shahab Rezaeian

Background: There is currently lack of knowledge about survival trend analysis of thalassemia patients. Therefore, the aim of the present study was to assess 5-, 10-, 20-, and 30-year survival of thalassemia patients over a 20-year time period. Methods: In this retrospective cohort study, we analysed the data of 982 beta-thalassemia patients in Iran. Birth cohort and traditional cohort analyses...

Journal: :modares journal of medical sciences: pathobiology 2009
somayeh jamali reza mahdian mina hayat nosaeid sadegh babashah fereshteh maryami

objective: alpha-thalassemia is one of the most prevalent hemoglobin disorders in the world and it is a common hereditary condition caused by deletion of one or more α-globin genes. common α-thalassemia deletions like 3.7 kb, 4.2 kb, 20.5 kb and med can be detected by multiplex pcr. there are, however, some unknown deletions that can not be detected by the mentioned method or even by direct dna...

Journal: :The Analyst 2014
Sirinart Chomean Nantawan Wangmaung Pornpimol Sritongkham Chamras Promptmas Sumana Mas-Oodi Dalina Tanyong Wanida Ittarat

A new application of gold nanoparticles (AuNPs) as a colorimetric method for gene detection of α-thalassemia 1 (SEA deletion) is reported here for the first time. This technique is based on color changes from salt-induced aggregation of un-hybridized nanogold probes after hybridization with the target DNA. Specific DNA probes were synthesized, thiol modified and conjugated on the surface of AuN...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2009
Lin Ye Judy C Chang Chin Lin Xiaofang Sun Jingwei Yu Yuet Wai Kan

The innovation of reprogramming somatic cells to induced pluripotent stem cells provides a possible new approach to treat beta-thalassemia and other genetic diseases such as sickle cell anemia. Induced pluripotent stem (iPS) cells can be made from these patients' somatic cells and the mutation in the beta-globin gene corrected by gene targeting, and the cells differentiated into hematopoietic c...

2015
Maria Stella Figueiredo

Hemoglobin (Hb) A2 ( 2 2) constitutes less than 3% of the total hemoglobin (Hb) in adults and has almost no physiological importance.1 On the other hand, the determination of Hb A2 is an important tool to diagnose the beta-thalassemia trait (BTT).1,2 Although individuals with BTT do not need treatment, the accurate detection of the carrier state is important in genetic counseling to determine r...

2013
Zohreh Rahimi

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...

Journal: :European journal of haematology 2008
Sakorn Pornprasert Arunee Phusua Sudjai Suanta Rattika Saetung Torpong Sanguansermsri

Alpha-thalassemia-1 Southeast Asian (SEA) type is the most common genetic disorder in the Asian population. Couples who are both carriers have a 25% chance of conceiving Bart's hydrops fetalis. Therefore, results from carrier screening and prenatal diagnosis frequently need to be available rapidly. A rapid technique for diagnosis of alpha-thalassemia-1 SEA type was implemented. The technique us...

2017
Kanay Yararbaş Yasemin Ardıçoğlu Nejat Akar

Over 2000 gene variants were reported in the beta globin gene, including hemoglobin variants. These variants are important from clinical and genetic counseling points of view [1,2]. Recently a genetically related Turkish couple was referred to our department for genetic counseling for beta thalassemia carrier status. During premarital screening they were both diagnosed as beta thalassemia carri...

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