The Comprehensive Sickle Cell Center at The Children's Hospital of Philadelphia (CHOP) is in its fourth year of operation. In the past four years, we have made much progress in all the major components of the Center. Although much has been learned about sickle cell disease at all levels, effective therapy which takes advantage of this knowledge is still elusive. Even if such therapy were to become available soon, there is a need for accurate diagnosis and counseling; diagnosis and management of serious complications such as stroke; and education of those affected by the disease and those who manage it. These broad needs are addressed in this application. The main objective of our proposal is to seek new information about sickle cell disease and to translate this information into treatment programs which will improve the health and quality of life of sickle cell patients. The laboratory research includes studies on the expression of fetal hemoglobin, interaction of Hb S and mutagenized globin chains, mRNA structure and stability, experiments with transgenic mice, and in red cell deformability using image analysis system. Clinical projects address nutrition, energy metabolism and growth, the development of cerebrovascular disease, and a limited multi-center trial of hydroxyurea in children with sickle cell disease. In our diagnosis and counseling projects, we will develop methods for specific identification of the common beta-gene mutations, and another project determines if a newborn screening program for sickle cell disease can be designed and implemented in West Africa. Educational projects include an extension of the computer-based education on sickle cell disease, a program to improve educational outcome for young children with sickle cell disease and employment opportunities for adolescent patients. A third educational project takes educational programs developed and evaluated at this Center into regional programs of professional education about sickle cell disease. These projects are supported by a central administrative core, a clinical research unit, and a laboratory core which includes a state-of-the-art nucleic acid and protein chemistry laboratory service. In addition to investigators from the Division of Hematology of CHOP, investigators from other Divisions of CHOP and from other departments of the University of Pennsylvania are participants in the Center. We continue our collaborative arrangement with one investigator from Thomas Jefferson University Hospital. The Center proposes to maintain its strong links with the community.
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