Inati Adlette, Chabtini Lola, Mounayar Marwan, Taher Ali
Division of Pediatric Hematology - Oncology, Rafik Hariri University Hospital, Beirut, Lebanon.
Hemoglobin. 2009;33 Suppl 1:S107-15. doi: 10.3109/03630260903347682.
Sickle cell disease (SCD), the commonest monogenetic disorder worldwide, represents a major public health burden because of its significant morbidity and mortality. Advances in molecular and cellular biology have resulted in an accumulation of knowledge on sickle cell pathophysiology and broadened our understanding of the complexity of this molecular disease with heterogeneous manifestations. Natural history studies and clinical trials have provided incremental data on clinical features, complications, and predictors of severity in SCD and, above all, have laid important recommendations for prevention and treatment of complications. Disease modifying therapies that have significantly improved survival of SCD patients have been identified over recent years. Despite increasingly successful therapies and better overall survival, patients continue to die especially with increasing age and health providers caring for SCD patients face major challenges. This article will highlight modern management of SCD and its impact on the lives of affected patients.
镰状细胞病（SCD）是全球最常见的单基因疾病，因其显著的发病率和死亡率而成为一项重大的公共卫生负担。分子和细胞生物学的进展使我们积累了有关镰状细胞病理生理学的知识，并拓宽了我们对这种具有异质性表现的分子疾病复杂性的理解。自然史研究和临床试验提供了关于SCD临床特征、并发症及严重程度预测因素的更多数据，最重要的是，为并发症的预防和治疗提出了重要建议。近年来已确定了能显著提高SCD患者生存率的疾病修饰疗法。尽管治疗越来越成功，总体生存率也有所提高，但患者仍会死亡，尤其是随着年龄增长，而照顾SCD患者的医疗服务提供者面临重大挑战。本文将重点介绍SCD的现代管理及其对受影响患者生活的影响。
