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名非洲裔美国人患有此病。由于其通过慢性溶血性贫血、微血管闭塞和慢性炎症状态等复杂的病理生理机制，影响到多个器官系统，导致严重的发病率和器官损害，并导致频繁的住院和医疗保健。在过去的35年里，主要通过NIH资助的综合镰刀细胞中心进行的研究和患者护理以及一些关键的临床试验，SCD患者的预期寿命从十几岁增加到45岁左右。这仍然比没有患镰状细胞疾病的非裔美国人短得多，即使在这个服务不足的少数族裔人口中，这也可以被视为一个主要的差距。虽然通过基础研究和翻译研究在对疾病病理生理学的理解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。东南探索性镰刀细胞卓越中心致力于通过以下方式改善SCD患者群体的护理和生活质量：i)研究一种非常成功和有效的Hb F诱导药物羟基脲的基本作用机制，ii)确定潜在的疼痛频率和对麻醉药物的反应的基因变异，从而解决导致许多SCD患者及其治疗中的耻辱的生物/遗传基础这一重要问题，iii)调查SCD中羟基尿素利用不足的医学、社会和经济原因，iv)在SCD患者的护理中培训具有循证医学的初级保健医生，鉴于严峻的现实是，非恶性血液病的专科医生将不足以满足不断增长的成年SCD人口的需求，以及v)实施创新的方法和概念，以在急诊室护理SCD患者，并从儿科护理过渡到成人护理。缓解SCD患者的健康差距是这一应用程序的主要目标。

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.