Alli N A, Patel M, Alli H D, Bassa F, Coetzee M J, Davidson A, Essop M R, Lakha A, Louw V J, Novitzky N, Philip V, Poole J E, Wainwright R D
S Afr Med J. 2014 Nov;104(11):743-51. doi: 10.7196/samj.8470.
The spectrum of sickle cell disease (SCD) encompasses a heterogeneous group of disorders that include: (I) homozygous SCD (HbSS), also referred to as sickle cell anaemia; (ii) heterozygous SCD (HbAS), also referred to as sickle cell trait; and (iii) compound heterozygous states such as HbSC disease, HbSβ thalassaemia, etc. Homozygous or compound heterozygous SCD patients manifest with clinical disease of varying severity that is influenced by biological and environmental factors, whereas subject with sickle cell trait are largely asymptomatic. SCD is characterized by vaso-occlusive episodes that result in tissue ischaemia and pain in the affected region. Repeated infarctive episodes cause organ damage and may eventually lead to organ failure. For effective management, regular follow-up with support from a multidisciplinary healthcare team is necessary. The chronic nature of the disease, the steady increase in patient numbers, and relapsing acute episodes have cost implications that are likely to impact on provincial and national health budgets. Limited resources mandate local management protocols for the purposes of consistency and standardisation, which could also facilitate sharing of resources between centres for maximal utility. These recommendations have been developed for the South African setting, and it is intended to update them regularly to meet new demands and challenges.
镰状细胞病（SCD）的范围包括一组异质性疾病，其中包括：（I）纯合子SCD（HbSS），也称为镰状细胞贫血；（ii）杂合子SCD（HbAS），也称为镰状细胞性状；以及（iii）复合杂合子状态，如HbSC病、HbSβ地中海贫血等。纯合子或复合杂合子SCD患者表现出严重程度各异的临床疾病，其受生物学和环境因素影响，而具有镰状细胞性状的个体大多无症状。SCD的特征是血管闭塞性发作，导致组织缺血和受累区域疼痛。反复的梗死发作会导致器官损伤，并最终可能导致器官衰竭。为了进行有效的管理，在多学科医疗团队的支持下进行定期随访是必要的。该疾病的慢性性质、患者数量的稳步增加以及急性发作的复发都具有成本影响，可能会对省级和国家卫生预算产生影响。有限的资源要求制定地方管理方案，以实现一致性和标准化，这也有助于各中心之间共享资源，以实现最大效用。这些建议是针对南非的情况制定的，并且打算定期更新以应对新的需求和挑战。
