Beta-thalassemia is the most common inherited blood disorder in the world. The advances in molecular genetic technology have made beta- thalassemia the first genetic disease that, the molecular basis being characterized for more than 90-of all defective genes, has provided new methods for its diagnosis. Unfortunately, current molecular techniques are available only in specialized research labs, and only a few patients actually benefited from these techniques. Therefore, they do not meet the demands for clinical diagnosis and requirements of carrier detection and genetic counseling. The proposed Phase II research seeks to exploit the molecular techniques of direct analysis of beta-globin gene lesions and erythroid cell mRNA, coupled with micro-DNA (or RNA) sampling from dried blood to develop a simple, rapid and reliable diagnostic kits which will provide a new resource for the molecular diagnosis of beta-thalassemia in physicians' offices and clinica3 laboratories. Through successful Phase I studies, Dr. Huang and her associates have been able to establish the techniques of multiplex allele- specific amplification (MASTCR) as well as RT-PCR, both of which are able to be coupled with dried blood sampling method, so that the patients and carriers with betathalassemia mutations can easily be diagnosed at DNA and/or RNA levels. In Phase II Dr. Huang and her associates will extend and standardize these techniques; they will assemble a variety of reagents to produce standard kits and use them for testing beta thalassemia syndromes.
