Musuka Hazel W, Iradukunda Patrick Gad, Mano Oscar, Saramba Eric, Gashema Pierre, Moyo Enos, Dzinamarira Tafadzwa
School of Medicine, Medical Science and Nutrition, University of Aberdeen, Aberdeen AB25 2ZR, UK.
Rwanda Food and Drug Authority, Kigali 3243, Rwanda.
Trop Med Infect Dis. 2024 Nov 29;9(12):292. doi: 10.3390/tropicalmed9120292.
Sickle cell disease (SCD) is a prevalent inherited blood disorder, particularly affecting populations in Africa. This review examined the disease's burden, its diverse clinical presentations, and the challenges associated with its management in African settings. Africa bears a significant burden of SCD, with prevalence varying across countries and age groups. Newborn screening programs have highlighted the high prevalence of SCD at birth, emphasizing the need for early diagnosis and intervention. The clinical manifestations of SCD in Africa are multifaceted, encompassing acute complications like vaso-occlusive crises, acute chest syndrome, and stroke, as well as chronic complications such as organ damage and leg ulcers. Biological factors, including fetal hemoglobin levels, and demographic factors, like age and sex, influence disease severity and outcomes. The management of SCD in Africa faces numerous challenges. Limited access to resources, including diagnostic tools, medications, and trained healthcare professionals, hinders optimal care. The high cost of advanced therapies further restricts patient access. Cultural stigma and a lack of awareness create additional barriers to effective management. To address these challenges, early diagnosis through newborn screening programs and point-of-care testing is crucial. Comprehensive care models, including hydroxyurea therapy, pain management, and patient education, are essential for improving outcomes. Collaboration with international networks and leveraging local resources can enhance the sustainability of SCD programs. In conclusion, SCD significantly impacts African populations. Overcoming the challenges associated with its management requires addressing resource limitations, affordability issues, and cultural barriers. Early diagnosis, comprehensive care models, and ongoing research focused on affordability and accessibility are crucial for improving the lives of individuals living with SCD in Africa.
镰状细胞病（SCD）是一种常见的遗传性血液疾病，尤其影响非洲人群。本综述探讨了该疾病在非洲地区的负担、多样的临床表现以及管理方面所面临的挑战。非洲承受着镰状细胞病的重大负担，其患病率因国家和年龄组而异。新生儿筛查项目凸显了出生时镰状细胞病的高患病率，强调了早期诊断和干预的必要性。非洲镰状细胞病的临床表现是多方面的，包括血管闭塞性危机、急性胸部综合征和中风等急性并发症，以及器官损害和腿部溃疡等慢性并发症。生物因素，包括胎儿血红蛋白水平，以及人口统计学因素，如年龄和性别，都会影响疾病的严重程度和预后。非洲镰状细胞病的管理面临诸多挑战。包括诊断工具、药物和训练有素的医疗专业人员在内的资源获取有限，阻碍了最佳治疗。先进疗法的高昂成本进一步限制了患者的可及性。文化污名和认识不足为有效管理带来了额外障碍。为应对这些挑战，通过新生儿筛查项目和即时检验进行早期诊断至关重要。包括羟基脲治疗、疼痛管理和患者教育在内的综合护理模式对于改善预后至关重要。与国际网络合作并利用当地资源可以提高镰状细胞病项目的可持续性。总之，镰状细胞病对非洲人群有重大影响。克服与其管理相关的挑战需要解决资源限制、可负担性问题和文化障碍。早期诊断、综合护理模式以及专注于可负担性和可及性的持续研究对于改善非洲镰状细胞病患者的生活至关重要。
