Molecular Diagnostic Kits for Beta-Thalassemia

Beta-thalassemia is the most common inherited blood disorder. Advances in recombinant DNA and genetic technologies have made Beta-thalassemia the primary genetic disease of multiple mutations. Molecular basis is being characterized for more than 90% of all the defective genes and is leading to new methods for Beta-thalassemia diagnosis. However, current molecular technologies are only available in specialized research laboratories, and very few patients can actually receive benefits form them. These techniques cannot be utilized and applied to clinical diagnosis, carrier detection and genetic counselling. We will conduct research and study the molecular technologies of direct analysis of Beta-globin gene lesions and quantitation of erythroid cell mRNA, combined with micro-DNA sampling (MDS) from dried blood method to develop simple and rapid molecular diagnostic kits which will provide a new method for the diagnosis of Beta- thalassemia syndrome, for the clinical laboratories. Our new diagnostic kits will play an important role in providing clear understanding of the carrier rates of the mutant Beta-globin alleles. These understandings will improve the current various programs in the U. S. and other countries to monitor the birth rate of affected children.