Molecular diagnosis of patients with β-thalassemia major in central Taiwan by amplified created restriction site analysis
نویسندگان
چکیده
منابع مشابه
Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites.
We developed a rapid and simple method to diagnose the molecular defects of beta-thalassemia in Chinese patients. This method involves the selective amplification of a DNA fragment from human beta globin gene with specific oligonucleotide primers, followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. To detect the 4-nucleoti...
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Background: Advances in treatment of thalassemia major (TM) have improved life expectancy and survival of the patients. This study was conducted to assess survival rate of these patients in Guilan province, Northern Iran. Methods: In this cross-sectional study, records of 1243 patients with TM from 2001 to March 2016 were evaluated in Guilan province. Sources of data were health centers of the...
متن کاملEffect of Pamidronate on Osteoporosis in Patients with β-Thalassemia Major
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...
متن کاملEVALUATION OF PULMONARY IRON OVER LOAD IN PATIENTS WITH Β-THALASSEMIA MAJOR USING SPIROMETRY
Background & Aims: Spirometry changes in thalassemic patients can be obstructive or restrictive and pulmonary dysfunction depends on age and body iron overload. In this study the effectiveness of lung spirometry in detecting iron overload in patients with β-thalassemia was investigated. Materials & Methods: This cross-sectional (descriptive-analytic) study investigated the spirometry test resu...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 1998
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380050080