Thalassemia is a fatal genetic blood disease that is a worldwide public health problem. Despite some improvement in supportive care, limited advances have occurred in the treatment of patients. This proposal describes the California Thalassemia Center (CTC) and its proposed clinical research studies. In California there has been a rapid growth in the number of thalassemia patients because of the large immigration of at-risk people of Asian descent. This has led to thalassemia variants being the most common finding in the California newborn screening program. The CTC presently cares for 206 patients, including 163 patients in the northern center and 43 patients at the recently developed Los Angeles satellite. There are 80 chronically transfused patients and 126 thalassemia intermedia patients. The most common genotypes are Beta-0 thalassemia and E- Beta thalassemia. The Northern California Thalassemia Center was established in 1991 to provide multi-disciplinary care from primary though tertiary service. Integrated into the thalassemia team are subspecialty services including bone marrow transplantation, endocrinology, osteoporosis, cardiology, GI, genetics, psychosocial and primary care. The team meets regularly to review each patient's status and develop a prospective clinical plan. Families are also offered informed opportunities to participate in clinical research. The Thalassemia Coordinating Center is located at Children's Hospital Oakland (CHO) with outreach satellites and includes a specialty outpatient unit, ambulatory transfusion unit, and clinical research center. An adjacent Children's Hospital Oakland Research Institute is dedicated to hemoglobin studies and has a DNA lab, membrane lab, and an iron center (a SQUID is being built). The program has successful experience leading clinical trials in thalassemia, which provides the foundation for the three studies proposed. All three studies have been reviewed for collaborative support and feasibility analysis with thalassemia centers in the US. The first study addresses the problem of accurate measurement of iron burden. It compares new noninvasive technology (New Generation SQUID, MRI and CT) with the gold standard of liver biopsy. The second proposal is designed to determine whether chimeric stem cell transplant is a safe and effective therapy for high-risk thalassemia patients. The third project is a short-term demonstration project on the feasibility and value of setting up an umbilical cord blood program for thalassemia with thalassemia centers across the US. In summary, the CTC has experience, a comprehensive infrastructure, the patient population, and research studies needed to reach the goals of the Thalassemia Clinical Research Network.
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