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

项目总结 镰状细胞病(SCD)是一种遗传性血液疾病，会导致疼痛、易感染和严重 增加中风、肾脏疾病和心脏病等心血管疾病的风险。SCD是 在非洲很常见，因为具有镰状细胞特征(即杂合子)的人可以免受严重的 疟疾。不幸的是，现在撒哈拉以南的非洲地区有超过23.5万名出生时患有SCD的儿童 年。如果没有确诊，这些儿童中有50%-90%可能在五岁之前死亡，其中大部分是死于细菌 患有SCD的儿童高度易感的感染。非洲各地的新生儿筛查项目需要 扩大到对SCD的普遍筛查，以便出生时患有这种疾病的儿童可以得到 以证据为基础的干预措施，以控制疼痛，降低感染风险，并减缓疾病的进展 血管疾病。为了应对这些挑战，已经建立了泛非镰状细胞网络，并正在 由NHLBI支持。在这份提案中，我们介绍了位于巴马科的一个繁忙的镰状细胞治疗中心， 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 通过持续的质量保证和质量改进，获取、提供一致的护理标准，以及 开展观察性和实施性研究，以解决非洲面临的最紧迫问题 患有SCD的人。 抗击巨细胞中心(CRLD)是综合性的镰状细胞护理中心 成立于2010年，目前为超过12,000名SCD患者提供服务。我们继续招收120-150名新学员 每个月都有病人。我们提供诊断服务、咨询和教育，以及预防和 对SCD患者的急性护理。 为了建立一个由4,000名SCD患者组成的纵向队列，我们将在 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1000人。描述性临床数据与生物检疫 注册时收集的信息将与联盟共享。 我们建议提供满足SCD社区最紧迫需求的护理标准。 这些措施包括：(1)提供诊断、咨询和教育；(2)通过以下方式减少传染病的风险 提供疫苗、抗生素和疟疾化学预防；和(3)提供羟基尿素，一种诱导剂 胎儿血红蛋白的表达和治疗SCD的有效方法，适用于高危患者。 最后，我们建议进行观察性和实施性研究，以改善对 患有SCD的人。其中包括(I)研究我们的咨询和教育干预措施的影响；(Ii) 描述门诊发烧的原因和后果；和(3)扩大疟疾 对年龄较大的儿童进行化学预防。 我们共同致力于改善现在和未来对非洲SCD患者的护理和治疗。

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.