Ballas Samir K
Cardeza Foundation for Hematologic Research, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Clin Hemorheol Microcirc. 2018;68(2-3):129-145. doi: 10.3233/CH-189003.
Sickle cell disease (SCD) in general and sickle cell anemia in particular is a highly complex disorder both at the molecular and clinical levels. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of the disease. Moreover, despite the fact that SCD is a chronic malady, its manifestations are both acute and chronic. The former include, among other things, the recurrent vaso-occlusive crises (its hallmark) and acute chest syndrome. The chronic complications include most commonly avascular necrosis and leg ulcers. Currently, survival of patients with SCD has improved dramatically thanks to newborn screening, antibiotic prophylaxis, better vaccine, safer blood transfusion and the use of hydroxyurea. It is the advent of these therapies that improved the survival. This improvement, however, introduced a third dimension of the disease: comorbidities that occur in aging people in the general population. There is concern that the gain in survival may be offset by the comorbidities. Thus it is the purpose of this review to identify the comorbidities in the elderly with SCD and differentiate them from the basis disease to implement proper therapies so that better survival could be maintained.
一般而言，镰状细胞病（SCD），尤其是镰状细胞贫血，在分子和临床层面都是一种高度复杂的疾病。尽管分子病变是单点突变，但镰状基因本质上具有多效性，会导致多种表型表达，构成该疾病的各种并发症。此外，尽管SCD是一种慢性疾病，但其表现既有急性的也有慢性的。前者尤其包括反复发生的血管闭塞性危机（其标志）和急性胸部综合征。慢性并发症最常见的是缺血性坏死和腿部溃疡。目前，由于新生儿筛查、抗生素预防、更好的疫苗、更安全的输血以及羟基脲的使用，SCD患者的生存率有了显著提高。正是这些疗法的出现提高了生存率。然而，这种改善带来了该疾病的第三个方面：普通人群中老年人出现的合并症。人们担心生存率的提高可能会被合并症抵消。因此，本综述的目的是识别老年SCD患者的合并症，并将它们与基础疾病区分开来，以便实施适当的治疗，从而维持更好的生存状况。
