New Investigation Initiatives for the Prevention of Complications of Thalassemia

这是波士顿儿童医院地中海贫血综合护理中心的新申请 (CHB)与亚特兰大儿童医院地中海贫血项目进行了场外合作。两 在疾病控制和预防中心领导的第一个五年期间， 地中海贫血项目。本提案的目的是评估和预防， 地中海贫血并发症的管理。目标人群包括新英格兰的个人 在亚特兰大地区，输血依赖性β地中海贫血（塔尔）、α塔尔（纯合子 和血红蛋白H病）、中间塔尔病和相关病症。塔尔的疾病负担是 高没有任何一组人在一生中接受如此多的新鲜红细胞输注， 输血依赖性塔尔患者（基本上每月输血一次）。因此，筛选 血液传播疾病是管理的一个重要部分。此外，随着输血来强制性铁 超负荷，铁相关的心脏病，肝病和内分泌疾病是主要原因， 发病率和死亡率。口服铁螯合剂的良好依从性与 存活率提高，但即使是明显螯合良好的患者，加上未输血的塔尔中间体 患者可能在数十年内发展出危及生命的铁相关并发症，包括心力衰竭， 心律失常、肝硬化、糖尿病以及不孕不育等生殖内分泌失调。面临 面对这些挑战，管理、监测和预防并发症的关键包括 在专家中心定期进行全面访问，专家和测试熟练的塔尔护理，正在进行 血液安全监测和铁及其后遗症的测试，以及社区外展，合作 患者支持小组、家庭和患者教育，以及持续的心理社会评估， 支持. CHB的地中海贫血项目已经活跃了40多年， 该领域的发展，特别是螯合疗法。该项目的具体目标是：（一） 为塔尔提供全面护理，筛查潜在并发症，并实施策略， 预防并发症;（二）启动患者/家庭教育计划， 做五个 血友病中心和疾病预防控制中心使用的战略，以促进全面的护理，疫苗的血液传播 病毒、适当螯合和血液安全监测。(III)建立研究合作， NIH赞助的地中海贫血临床研究网络（CHB和CHOA属于该网络; 研究者Neufeld博士是TCRN指导委员会的主席。每个目标都包含一项研究 用于评估临床结局的组件，旨在为进一步研究生成假设，以及 提供改善护理和减少并发症的机会。叙述： 该项目的目的是改善护理和长期健康结果， 地中海贫血（Cooley贫血）。这是一个新的申请加入一个 美国几个大型地中海贫血项目正在进行的合作奋进， 波士顿儿童医院作为主要研究中心，埃默里/儿童保健中心 亚特兰大作为一个合作网站。这些目标将通过提供 为依赖输血的病人提供全面的医疗服务 地中海贫血，并筛查患者的血源性感染和 并发症的障碍，这是有关输血铁超载， 治疗铁的问题。我们提出一项全国性的教育战略 类似于血友病社区发起的努力， 支持，全面护理。我们建议在 在芝加哥儿童纪念医院的发展，以改善数据 从电子医疗记录中提取。最后，我们建议正式 与地中海贫血临床研究网络的国家合作 心脏、血液和肺研究所，以利用正在进行的纵向筛查 在这两个网络中。

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.