New Investigation Initiatives for the Prevention of Complications of Thalassemia

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This is a new application for a comprehensive Thalassemia care center, at Children's Hospital Boston (CHB), with off-site collaboration with the Thalassemia program of Children's Hospital of Atlanta. Both organizations have been participants as subcontractors in the first five year period of the CDC-led Thalassemia project. The objectives of this proposal are to provide assessment for, and prevention and management of complications of Thalassemia. The target populations include individuals in New England and in the Atlanta region, with transfusion-dependent beta Thalassemia (Thal), alpha Thal (homozygous and hemoglobin H disease), Thal intermedia, and related disorders. The burden of disease in Thal is high. No other single group of humans receives as many fresh red cell transfusions in a lifetime as patients with transfusion-dependent Thal (essentially monthly transfusion for life). Therefore, screening for blood borne diseases is a crucial part of management. In addition, with transfusions comes obligatory iron overload, and iron-related heart disease, liver disease, and endocrinopathies are major causes of morbidity and mortality in this patient group. Good compliance with oral iron chelators is highly correlated with improved survival, but even apparently well-chelated patients, plus non-transfused Thal intermedia patients, can develop over decades, life-threatening iron-related complications including heart failure, arrhythmia, cirrhosis, diabetes, as well as infertility and other reproductive endocrine disorders. Faced with these challenges, the keys to management, surveillance and prevention of complications include regular comprehensive visits at expert centers with specialists and tests skilled in Thal care, ongoing blood safety surveillance and tests for iron and its sequelae, as well as community outreach, collaboration with patient support groups, family and patient education, and continuing psychosocial assessment and support. The Thalassemia program at CHB has been active for more than 40 years, and has led many of the developments in the field, particularly in chelation therapy. The specific aims of this project are: (I) to provide comprehensive care in Thal, screen for potential complications, and implement strategies to prevent complications; (II) to initiate a patient/family education program modeled on the Do the Five strategy used by hemophilia centers and CDC to promote comprehensive care, vaccines for blood-borne viruses, adequate chelation, and blood safety monitoring. (III) To establish research collaboration with the NIH-sponsored Thalassemia Clinical Research Network (to which CHB and CHOA belong; and principal investigator Dr. Neufeld is chair of the TCRN steering committee.) Each aim contains a research component for assessment of clinical outcomes, aimed at generating hypothesis for further research, and providing opportunities to improve care and reduce complications. Narrative: The purpose of this project is to improve care and long-term health outcomes in patients with Thalassemia (Cooley's Anemia). This is a new application to join an ongoing cooperative endeavor of several large US Thalassemia programs, with Children's Hospital, Boston as the primary site, and Emory/Children's Healthcare of Atlanta as a collaborating site. The goals will be achieved by providing comprehensive medical services to patients with transfusion-dependent Thalassemia, and screening patients for blood-borne infections and for complications of the disorder, which are related to transfusional iron overload and to treatment of iron problems. We propose a nationwide educational strategy analogous to the efforts launched in the hemophilia community, with CDC support, for comprehensive care. We propose to pilot a new database under development at Children's Memorial Hospital in Chicago, to improve data abstraction from the electronic medical records. Finally, we propose formal collaboration with the Thalassemia clinical research network of the National Heart, Blood, and Lung Institute, to leverage the ongoing longitudinal screening in both networks.