Blood Diseases Branch, Division of Blood Diseases and Resources, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892-7950, USA.
Am J Hematol. 2012 Mar;87(3):340-6. doi: 10.1002/ajh.22271. Epub 2012 Feb 3.
Sickle Cell Trait (HbAS), the heterozygous state for the sickle hemoglobin beta globin gene is carried by as many as 100 million individuals including up to 25% of the population in some regions of the world (World Health Organization, Provisional agenda item 4.8, EB117/34 (22 December 2005) or World Health Organization, Provisional agenda item 11.4 (24 April 2006)). Persons with HbAS have some resistance to falciparum malaria infection in early childhood (Piel FB, Patil AP, Howes RE, et al., Nat Commun 2010;1104:1-7 and Aidoo M, Terlouw DJ, Kolczak M, et al., Lancet 2002;359:1311-1312) and as a result individuals with HbAS living in malarial endemic regions of Africa have a survival advantage over individuals with HbAA. Reports from the US emphasize possible health risks for individuals with HbAS including increased incidence of renal failure and malignancy, thromboembolic disorders, splenic infarction as a high altitude complication, and exercise-related sudden death. The National Heart, Lung, and Blood Institute, National Institutes of Health convened a workshop in Bethesda, Maryland on June 3-4, 2010, Framing the Research Agenda for Sickle Cell Trait, to review the clinical manifestations of HbAS, discuss the exercise-related sudden death reports in HbAS, and examine the public health, societal, and ethical implications of policies regarding HbAS. The goal of the workshop was to identify potential research questions to address knowledge gaps.
镰状细胞特征（HbAS），即β珠蛋白基因的杂合状态，多达 1 亿人携带，包括世界某些地区多达 25%的人口（世界卫生组织，临时议程项目 4.8，EB117/34（2005 年 12 月 22 日）或世界卫生组织，临时议程项目 11.4（2006 年 4 月 24 日））。HbAS 个体在幼儿时期对恶性疟原虫感染具有一定的抵抗力（Piel FB、Patil AP、Howes RE 等人，Nat Commun 2010；1104:1-7 和 Aidoo M、Terlouw DJ、Kolczak M 等人，Lancet 2002；359:1311-1312），因此生活在非洲疟疾流行地区的 HbAS 个体比 HbAA 个体具有生存优势。来自美国的报告强调了 HbAS 个体可能存在的健康风险，包括肾衰竭和恶性肿瘤、血栓栓塞性疾病、脾梗死作为高原并发症以及与运动相关的猝死发生率增加。美国国家心肺血液研究所，美国国立卫生研究院于 2010 年 6 月 3 日至 4 日在马里兰州贝塞斯达召开了一次研讨会，题为镰状细胞特征研究议程制定，以审查 HbAS 的临床表现，讨论 HbAS 中与运动相关的猝死报告，并检查 HbAS 相关政策的公共卫生、社会和伦理影响。研讨会的目标是确定潜在的研究问题，以解决知识差距。
