BACKGROUND Mutations in β-globin gene may result in β-thalassemia major, which is one of the most common genetic disorders in Iran and some other countries. Knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagnosis in the affected fetuses (major β-thalassemia) of heterozygote couples. METHODS Couples with high hemoglobin A(2) and low mean corpuscular volume were ...

BACKGROUND Hemoglobinopathies are priority genetic diseases for prevention programs. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis for carrier couples. METHODS As a model, we designed a protocol based on the LightCycler technology to screen for a spectrum of beta-globin gene mutations in the Greek population. Design wa...

Beta thalassemia is a common hereditary hemalogogical disease in Thailand, with a prevalence of 5-8%. In this study, we evaluated the high resolution DNA melting (HRM) assay to identify beta thalassemia mutation in samples from 143 carriers of the beta thalassemia traits in at risk couples. The DNA was isolated from venous blood samples and tested for mutation under a series of 5 PCR-HRM (A, B,...

OBJECTIVE To determine the prevalence of various mutations in beta (beta) thalassaemia and its association with haematological parameters. METHODS A descriptive cross sectional study was carried out in the Department of Haematology, Armed Forced Institute of Pathology (AFIP) from February 2009 to January 2010. A total of 515 carriers having beta thalassaemia mutations characterized by Multipl...

Abstract β-thalassemia major (β –TM) is the most common thalassemia severe phenotype among Iranians. In recent years, molecular understanding of pathogenesis of β –TM has provided a great opportunity regarding diagnostic issues. Creating comprehensive molecular databases provides highly sensitive diagnostic tools for β –TM and effective prenatal diagno...