BACKGROUND β-thalassemia, a monogenic autosomal recessive disorder, is prevalent in Middle East, particularly in Iran. In Iran, near to 20 mutations in the β-globin gene are introduced as common mutations with varying incidence frequencies in each city. Therefore, detection and screening for couples at high risk can help to solve the problems of this disease. In this study, optimized genotyping...

BACKGROUND/AIM IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish population. In this study, our aim is to develop a reliable, fast, real-time kit for these mutations using the TaqMan probe method. MATERIALS AND METHODS This study included 100 individuals with beta-thalassemia or sickle ce...

BACKGROUND Hemoglobinopathies are the most common inherited diseases worldwide. Various methods for genotyping of hemoglobin, beta (HBB) gene mutations have been reported, but there is need for a high sample-throughput, cost-effective method for simultaneous screening of several mutations. We report a method that combines the high detectability and dynamic range of chemiluminescence with the hi...

OBJECTIVE To describe hematological and molecular features of a 13-bp deletion in the 3' untranslated region(3' UTR) of the β-globin gene in carrier individuals and a compound heterozygous patient. SUBJECTS AND METHODS Five members of an Iranian family of Persian ethnic origin were studied. Red blood cell indices and hemoglobin analysis were carried out according to standard methods. Genomic ...

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 chromos...

β-thalassemia, a monogenic autosomal recessive disorder, is prevalent in middle east, particularly in iran. in iran, near to 20 mutations in the β-globin gene are introduced as common mutations with varying incidence frequencies in each city. therefore, detection and screening for couples at high risk can help to solve the problems of this disease. in this study, optimized genotyping of two com...

introduction: recent molecular studies on iranian β-thalassemia genes revealed the presence of eight common mutations associated with thalassemia. although these mutations are frequent, there are other rare and unknown mutations that can create large problems in designing preventive programs. we detected and explained the common mutations in north-western iran previously and detection of the ra...