Sickle cell disease: a neglected chronic disease of increasing global health importance
Sickle cell disease: a neglected chronic disease of increasing global health importance
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DOI：
10.1136/archdischild-2013-303773
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发表时间：
2015-01-01
影响因子：
5.2
通讯作者：
Williams, Thomas N.
中科院分区：
文献类型：
--
作者：
Chakravorty, Subarna;Williams, Thomas N.
镰状细胞病(SCD)是一种单基因疾病，导致以慢性贫血、急性疼痛发作、器官梗塞和慢性器官损害为特征的衰弱系统综合征，并显著缩短预期寿命。SCD的起源位于热带疟疾地区，那里的携带者受到保护，不会死于疟疾，因此享有进化优势。最近，人口迁移意味着SCD现在在全球范围内分布，相当数量的儿童出生在较高收入地区，包括欧洲大部分地区和北美和南美洲。在许多这样的国家，新生儿筛查、系统的临床后续行动以及预防败血症和器官损伤已导致SCD患者的预期寿命延长；然而，在大多数人继续出生的资源有限的环境中，由于缺乏有效的早期发现和治疗方案，大多数受影响的儿童继续在儿童早期死亡，通常未得到诊断。随着可能导致疾病改善或治愈的新疗法的出现，最重要的是正确认识到资源匮乏国家的SCD的重大负担。
Sickle cell disease (SCD) is a single gene disorder causing a debilitating systemic syndrome characterised by chronic anaemia, acute painful episodes, organ infarction and chronic organ damage and by a significant reduction in life expectancy. The origin of SCD lies in the malarial regions of the tropics where carriers are protected against death from malaria and hence enjoy an evolutionary advantage. More recently, population migration has meant that SCD now has a worldwide distribution and that a substantial number of children are born with the condition in higher-income areas, including large parts of Europe and North and South America. Newborn screening, systematic clinical follow-up and prevention of sepsis and organ damage have led to an increased life expectancy among people with SCD in many such countries; however, in resource-limited settings where the majority continue to be born, most affected children continue to die in early childhood, usually undiagnosed, due to the lack of effective programmes for its early detection and treatment. As new therapies emerge, potentially leading to disease amelioration or cure, it is of paramount importance that the significant burden of SCD in resource-poor countries is properly recognised.