Department of Pediatric Hematology-Oncology, Sickle Cell Research, Medical University of South Carolina, Charleston, SC, USA.
Blood Rev. 2013 Nov;27(6):279-87. doi: 10.1016/j.blre.2013.09.001. Epub 2013 Sep 19.
Sickle cell disease (SCD) is a genetic disorder characterised by anaemia and "sickling" of red blood cells, leading to chronic haemolytic anaemia, vascular injury, and organ dysfunction. Although children and adults experience many similar symptoms and problems, complications increase with age, leading to early mortality. Hydroxyurea (hydroxycarbamide), the only US Food and Drug Administration-approved treatment, continues to be under-utilised and other treatments available to children are often inaccessible for adults. Haematopoietic stem-cell transplantation is a curative option, but is limited by a lack of donors and concerns for transplant-related toxicities. Although comprehensive programs exist in paediatrics, affected adults may not have access to preventative and comprehensive healthcare because of a lack of providers or care coordination. They are often forced to rely on urgent care, leading to increased healthcare utilisation costs and inappropriate treatment. This problem highlights the importance of primary care during the transition from paediatrics to adulthood.
镰状细胞病（SCD）是一种遗传性疾病，其特征为贫血和红细胞“镰变”，导致慢性溶血性贫血、血管损伤和器官功能障碍。尽管儿童和成人有许多相似的症状和问题，但并发症会随着年龄的增长而增加，导致早期死亡。羟基脲（hydroxycarbamide）是唯一获得美国食品和药物管理局批准的治疗药物，但仍未得到充分利用，而且儿童可用的其他治疗方法通常对成人来说难以获得。造血干细胞移植是一种有治愈可能的方法，但由于缺乏供体和对移植相关毒性的担忧，这种方法受到限制。尽管儿科有综合性的治疗方案，但由于缺乏提供者或治疗协调，受影响的成年患者可能无法获得预防和全面的医疗保健。他们往往被迫依赖紧急护理，导致医疗保健利用成本增加和治疗不当。这个问题凸显了从儿科到成年期过渡期间初级保健的重要性。
