Boston Comprehensive Sickle Cell Center

新千年为美国镰状细胞病患者开启了一个非凡、充满希望的时代。现在已经有了有效的治疗方法，而且有可能延长有效的寿命，并证明可以节省成本；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鼓舞人们对疾病生物学的了解。为迎接挑战，抓住镰状细胞病研究的机遇，波士顿镰刀细胞中心将针对镰状细胞性贫血和HBSC病进行新的治疗试验，重点是诱导HBF和防止镰状红细胞脱水。更多的基础研究将集中在红细胞生物学上，包括阳离子运输、低氧和氧化对正常和镰状红细胞Gardos通道的影响以及镰状红细胞的黏附特性的研究。通过确定一氧化氮在镰状细胞转基因小鼠的肺和血管反应中的作用，将研究一氧化氮在镰状细胞疾病病理生物学中的作用。我们还将：建立一个临床核心，为治疗试验奠定基础；为患者提供教育和咨询； 医疗专业人员；为血红蛋白病检测提供全国性资源。波士顿综合镰刀细胞中心的所有组成部分将被整合为一个有凝聚力的单元，以提高其效率，超越其组成部分的总和，并鼓励与其他地方和国家镰状细胞中心的互动。

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.