Improving Sickle Cell Disease Care in Mali through Engagement with a Pan-African Sickle Cell Disease Network.

项目摘要 镰状细胞病（SCD）是一种遗传性血液病，可引起疼痛，易感染， 增加患心血管疾病的风险，如中风、肾病和心脏病。SCD是 在非洲很常见，因为具有镰状细胞特征的个体（即，杂合子）被保护免受严重的 疟疾不幸的是，在撒哈拉以南非洲， 年如果得不到诊断，这些儿童中的50-90%可能在5岁之前死亡，主要是由于细菌性肺炎。 SCD儿童极易感染的传染病。非洲的新生儿筛查项目需要 扩大对SCD的普遍筛查，使出生时患有这种疾病的儿童能够接受 以证据为基础的干预措施，以管理疼痛，降低感染的风险，并减缓进展， 血管疾病为了应对这些挑战，已经建立了一个泛非镰状细胞网络， 由NHLBI支持。在这个提案中，我们介绍了一个位于巴马科的忙碌镰状细胞治疗中心， Mali，并解释该中心如何利用电子临床数据建立4，000名SCD患者的登记 获取、提供一致的护理标准，并持续进行质量保证和质量改进，以及 进行观察和实施研究，以解决非洲面临的最紧迫的问题 SCD患者。 中心Recherche et de Lutte contre la Drepanocytose（CRLD）是一家综合性镰状细胞护理中心。 成立于2010年，现在为超过12，000名SCD患者提供服务。我们继续招收120-150名新的 每个月的病人我们提供诊断服务，咨询和教育，以及预防和 为SCD患者提供紧急护理。 为了建立一个4,000名SCD患者的纵向队列，我们将开发数据采集工具， 与联盟协调，建立新的IRB批准的方案，并开始以一定的速度招募患者 第一年500人，以后每年1,000人。描述性临床数据和生物标本 在登记时收集的信息将与联盟共享。 我们建议提供护理标准，以解决SCD社区最迫切的需求。 这些措施包括：（一）提供诊断、咨询和教育;（二）通过以下方式降低传染病的风险： 提供疫苗、抗生素和疟疾化学预防;以及（III）提供 胎儿血红蛋白表达和SCD的已证实疗法，用于高危患者。 最后，我们提出了观察和实施研究，这将导致改善护理， SCD患者。这些措施包括（一）研究我们的咨询和教育干预的影响;（二） 描述门诊发热的病因和后果;以及（III）延长疟疾 对年龄较大的儿童进行化学预防。 我们共同致力于改善非洲SCD患者现在和未来的护理和治疗。

PROJECT SUMMARY Sickle cell disease (SCD) is an inherited blood disease that causes pain, susceptibility to infection, and greatly increases the risk of cardiovascular diseases such as stroke, kidney disease, and heart disease. SCD is common in Africa because individuals with sickle cell trait (i.e., heterozygotes) are protected against severe malaria. Unfortunately, there are now more than 235,000 children born with SCD in sub-Saharan Africa each year. Undiagnosed, 50-90% of these children could die before the age of five years, mostly from bacterial infections to which children with SCD are highly susceptible. Newborn screening programs across Africa need to be expanded towards universal screening for SCD so that children born with this condition can receive evidence-based interventions to manage pain, reduce the risk of infections, and slow the progression of vascular diseases. To address these challenges, a pan-African sickle cell network has been established and is supported by the NHLBI. In this proposal, we introduce a busy sickle cell treatment center based in Bamako, Mali and explain how this center establish a registry of 4,000 patients with SCD utilizing electronic clinical data capture, deliver consistent Standards of Care with ongoing quality assurance and quality improvement, and conduct observational and implementation research to address the most pressing questions facing African people with SCD. The Centre Recherche et de Lutte contre la Drepanocytose (CRLD) is comprehensive sickle cell care center established in 2010 that now serves more than 12,000 people with SCD. We continue to enroll 120-150 new patients each month. We provide diagnostic services, counseling and education, as well as preventive and acute care for people with SCD. To establish a longitudinal cohort of 4,000 patients with SCD, we will develop data capture instruments in coordination with the Consortium, establish new IRB-approved protocols, and begin enrolling patients at a rate of 500 in the first year and 1,000 each subsequent year. The descriptive clinical data and biospecimens collected on enrollment will be shared with the Consortium. We propose delivering Standards of Care that address the most pressing needs of the SCD community. These include (I) providing diagnosis, counseling, and education; (II) mitigating the risk of infectious disease by providing vaccines, antibiotics and malaria chemoprophylaxis; and (III) providing hydroxyurea, an inducer of fetal hemoglobin expression and a proven therapy for SCD, to high-risk patients. Finally, we propose observational and implementation research studies that will lead to improved care of people with SCD. These include (I) studying the impact of our counseling and education interventions; (II) describing the etiologies and consequences of fever in the outpatient setting; and (III) extending malaria chemoprophylaxis to older children. Together, we aim to improve the care and treatment of African people with SCD both now and in the future.