Molecular Diagnostic Kit for B Thalassemia Intermedia

Beta thalassemia intermedia, as one of the significant types of thalassemia syndromes, is seen amonapproximately 10% of patients with beta thalassemia. Recent advances in molecular genetics have discconjunction defects of beta thalassemia with a triplicated alpha globin gene loci may constitute a mthalassemia intermedia phenotype. Our proposal seeks to exploit the molecular technics of the rapidcommon alpha alpha alpha (anti3.7) haplotype, combined with the technique of micro DNA sampling (MDSblood for detection of beta thalassemia mutations, to develop a simple and reliable diagnostic kit tresource for the diagnosis of beta thalassemia intermedia in clinical labs and large population studplay an important role in more accurate understandings of the frequencies of the triplicated alpha lthe mutant beta thalassemia alleles) and eventually further improvement of the management and prevenbeta thalassemia intermedia. Beta thalassemia is one of the most common blood disorders, with a highdistribution in Africa, Asia, and in the Mediterranean region. In the past decade, about 90% of genethalassemia were well defined. Consequently, a number of molecular techniques as well as diagnosticdeveloped and used in those patients who carried known mutant alleles. Unfortunately, molecular diagcompleted by the available kits in the remainder 10% of patients who are mostly manifesting a phenotthalassemia intermedia. Our proposal seeks to exploit the recent advances in the molecular analysisintermedia, combined with our simple MDS method to develop a new molecular diagnostic kit for beta tintermedia that can be easily utilized in clinics and in the regions where the disease is prevalent.