Odame Isaac
Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
University of Toronto, Toronto, Ontario, Canada.
Arch Dis Child. 2023 Feb;108(2):108-114. doi: 10.1136/archdischild-2021-323633. Epub 2022 Jun 15.
Sickle cell disease (SCD), one of the most common monogenetic diseases in the world, is associated with multisystemic complications that begin in childhood. Most of the babies homozygous for the sickle haemoglobin gene are born in sub-Saharan Africa. Over the years, progress has been made with early diagnosis through newborn screening, penicillin prophylaxis, pneumococcal immunisation, transcranial Doppler (TCD) screening, hydroxyurea therapy and chronic blood transfusions with remarkably improved survival and quality of life of children with SCD. However, wide disparities in outcomes exist between high-income countries (HICs) where over 90% survive to adulthood, and low-income and middle-income countries (LMICs) where less than half achieve that milestone. Even in HICs, racial inequities pose barriers to accessing specialised care and receiving treatment for acute pain episodes. Better understanding of SCD pathophysiology is being exploited to develop new disease-modifying drugs and gene therapy approaches to further improve outcomes. Bone marrow transplantation is established as a curative treatment for SCD, but it is largely unavailable in LMICs. To bridge the disparity and inequity gaps, innovative approaches are needed in LMICs. Validated and more affordable, easy-to-use point-of-care tests offer opportunities to link early diagnosis with immunisation programmes and healthcare encounters. Widespread use of hydroxyurea therapy-a relatively affordable and effective disease-modifying drug-in LMICs would help improve survival and quality of life. Integration of SCD treatment into primary care linked to district level/provincial hospitals that are supported with evidence-based guidelines will help extend needed interventions to many more patients living in LMICs.
镰状细胞病（SCD）是世界上最常见的单基因疾病之一，与始于儿童期的多系统并发症相关。大多数镰状血红蛋白基因纯合的婴儿出生在撒哈拉以南非洲。多年来，通过新生儿筛查、青霉素预防、肺炎球菌免疫接种、经颅多普勒（TCD）筛查、羟基脲治疗和慢性输血等手段在早期诊断方面取得了进展，显著提高了SCD患儿的生存率和生活质量。然而，高收入国家（HICs）与低收入和中等收入国家（LMICs）之间的治疗结果存在巨大差异，在高收入国家，超过90%的患者能存活至成年，而在低收入和中等收入国家，只有不到一半的患者能达到这一里程碑。即使在高收入国家，种族不平等也成为获得专科护理和治疗急性疼痛发作的障碍。对SCD病理生理学的更深入了解正被用于开发新的疾病修饰药物和基因治疗方法，以进一步改善治疗结果。骨髓移植已被确立为SCD的一种治愈性治疗方法，但在低收入和中等收入国家基本无法获得。为了缩小差距和消除不平等，低收入和中等收入国家需要创新方法。经过验证且更经济实惠、易于使用的即时检验为将早期诊断与免疫计划及医疗保健服务联系起来提供了机会。在低收入和中等收入国家广泛使用羟基脲治疗（一种相对经济有效且能改变疾病进程的药物）将有助于提高生存率和生活质量。将SCD治疗纳入与地区级/省级医院相关的初级保健，并辅以循证指南，将有助于把所需的干预措施扩展到更多生活在低收入和中等收入国家的患者。
