NCMHD Southeastern Exploratory Sickle Cell Center of Excellence

描述：镰状细胞病（SCD）是一种遗传性血红蛋白疾病，在美国约有110，000名非洲裔美国人受到折磨。由于其通过慢性溶血性贫血、微血管闭塞和慢性炎症状态的复杂病理生理学，其影响多个器官系统并导致显著的发病率和器官损伤，以及导致频繁的住院和医疗保健遭遇。在过去的35年中，主要通过由NIH资助的综合镰状细胞中心和一些关键的临床试验进行的研究和患者护理，SCD患者的预期寿命从十几岁增加到四十多岁。这仍然比没有镰状细胞病的非洲裔美国人要短得多，即使在这个服务不足的少数民族人口中，也可以被视为一个重大的差距。虽然通过基础和转化研究在理解疾病病理生理学和新疗法方面取得了重大进展，但这些进展在临床实践中进展缓慢。东南部探索性镰状细胞卓越中心寻求通过以下方式改善SCD患者群体的护理和生活质量：i）调查高度成功和有效的血红蛋白F诱导药物，羟基脲的基本作用机制，ii）鉴定疼痛频率，对麻醉剂的反应，从而解决疼痛的生物学/遗传学基础及其治疗中的重要问题，导致许多SCD患者受到耻辱及其由此产生的差异，iii）调查医疗、社会、和经济原因导致羟基脲在SCD中的利用不足，iv）在SCD患者的护理中用循证医学培训初级保健医生，考虑到没有足够的非恶性血液学专家来满足不断增长的成人SCD人群的需求这一严峻现实，以及v）实施创新的方法和概念，用于在艾德中护理SCD患者以及用于从儿科护理过渡到成人护理。缓解SCD患者的健康差异是本申请的主要目标。

DESCRIPTION: Sickle cell disease (SCD) is a genetic disorder of hemoglobin and afflicts ~110,000 African-Americans in the US. Because of its complex pathophysiology through chronic hemolytic anemia, microvascularocclusion, and a chronic inflammatory state, it affects multiple organ systems and leads to significant morbidity and organ damage as well as leads to frequent hospitalizations and health care encounters. During the past 35 years, primarily through research and patient care conducted by the NIH funded Comprehensive Sickle Cell Centers and some pivotal clinical trials, the life expectancy of patients with SCD has increased from the teens to mid- to late forties. This is still considerably shorter than that of African-Americans who do not have sickle cell disease and can be viewed as a major disparity even in this underserved minority population. While significant advances have been made in the understanding of the disease pathophysiology and in novel therapies through basic and translational research, these advances have been slow to be taken to clinical practice. The Southeastern Exploratory Sickle Cell Center of Excellence seeks to improve the care and quality of life of the SCD patient population by i) investigating the basic mechanism of action of a highly successful and effective hemoglobin F inducing drug, hydroxyurea, ii) identifying genetic variations underlying the frequency of pain, response to narcotics, and thus addressing the important issue of biologic/genetic bases of pain and its under treatment leading to the stigmatization of many SCD patients and its resulting disparity, iii) investigating the medical, social, and economic reasons for underutilization of hydroxyurea in SCD, iv) training primary care physicians with evidence based medicine in the care of patients with SCD, given the sobering reality that there will not be enough specialists in non-malignant hematology to meet the needs of the growing adult SCD population, and v) implementing innovative methods and concepts for the care of SCD patients in the ED and for transitioning from pediatric to adult care. Relieving the health disparity of SCD patients is the primary goal of this application.