. Inherited blood disorders, such as thalassemia syndromes, sickle cell anemia and hemophilia are probably the most common monogenic diseases. During the past ten years, the advancements in applying molecular genetic technology, in the studies of the inherited blood disorders have dramatically increased our understanding of the molecular basis of these diseases and have provided new methods for their diagnosis. However, the new technology is available only in the highly specialized research laboratories. Thus, very few patients can actually benefit from it. Moreover, the conventional DNA sampling method is time consuming and labor intensive. It is not suited for clinical diagnosis, genetic counselling and population molecular screening. From our Phase I studies, we have established a simple micro-DNA sampling technique by direct analysis, using dried blood specimens from the filter paper blotters. We have also developed preliminary sampling kits and tested them for patients with thalassemic disorders, obtaining positive results. In Phase II, we propose to standardize our technique, and to assemble and validate a variety of the most promising reagents and also develop prestandardized kits. We will test them for patients with inherited diseases such as thalassemia syndrome, sickle cell anemia and hemoglobin variants. These simple, rapid and microextracted sampling kits will provide new tools for diagnosis and screening of the inherited blood disorders. They will lead to the prevention of the inherited blood disorders, world wide.
