Boston Comprehensive Sickle Cell Center

新千年为美国的镰状细胞病患者开启了一个非凡的、充满希望的时代。现在有了有效的治疗方法，有可能在节省成本的情况下延长有成效的生命；新的治疗方法正在进行临床试验；对血管生物学和人类基因组的新见解正在推动对这种疾病生物学的理解。为了应对镰状细胞病研究的挑战并抓住机遇，波士顿镰状细胞中心将开展镰状细胞性贫血和HbSC疾病的新型治疗试验，重点是诱导HbF和预防镰状红细胞脱水。更多的基础研究将集中在红细胞生物学上，包括研究阳离子运输、低氧和氧化对正常红细胞和镰状红细胞Gardos通道的影响以及镰状红细胞的粘附特性。一氧化氮在镰状细胞病病理生物学中的作用将通过在镰状细胞转基因小鼠中定义NO在肺和血管反应中的作用来检验。我们还将：建立临床核心，为治疗试验奠定基础；为患者提供教育和咨询

The new millennium opens an era of extraordinary, promise for sickle cell disease patients in the United States. Effective therapies are now available and longer, productive lives with proven cost savings are possible; novel treatments are undergoing clinical trials; understanding the biology, of the disease is being energized by new insights into vascular biology and the human genome. To meet the challenges and seize the opportunities of sickle cell disease research, the Boston Sickle Cell Center will carry out novel therapeutic trials in sickle cell anemia and HbSC disease focusing on the induction of HbF and prevention of dehydration of sickle erythrocytes. More basic studies will focus on erythrocyte biology and include studies of cation transport and the effect of hypoxlia and oxidation on the Gardos channel of both normal and sickle erythrocytes and adhesive properties of sickle erythrocytes. The role of nitric oxide in the pathobiology of sickle cell disease will be examined by defining the role of NO in the pulmonary and vascular responses in a sickle cell transgenic mouse. We will also: build a clinical core that will form a foundation for therapeutic trials; provide education and counseling for patients and medical professionals; provide a national resource for hemoglobinopathy testing. All components of the Boston Comprehensive Sickle Cell Center will be melded into a cohesive unit to increase its effectiveness beyond the sum of its components and encourage interactions with other local and national sickle cell centers.