Colorado Sickle Cell Treatment and Research Center, University of Colorado Denver Health Sciences Center, Aurora, CO 80045, USA.
Am J Prev Med. 2010 Apr;38(4 Suppl):S512-21. doi: 10.1016/j.amepre.2009.12.022.
The number of individuals with sickle cell disease (SCD) in the U.S. is unknown. Determination of burden of disease, healthcare issues, and policies is best served by representative estimations of the SCD population.
To update SCD population estimates by using recent U.S. Census and birth-cohort SCD prevalence for at-risk populations as available through the centralized reporting of universal newborn screening for hemoglobinopathies, with an effort to demonstrate the potential effect of early mortality.
National and state SCD populations were estimated based on the 2008 U.S. Census, using total, African-American, and Hispanic birth-cohort disease prevalence derived from the National Newborn Screening Information System. Estimates were corrected for early mortality for sickle cell anemia using data from the CDC's Compressed Mortality Report and published patient-cohort survival information.
National SCD population estimates ranged from 104,000 to 138,900, based on birth-cohort disease prevalence, but from 72,000 to 98,000 when corrected for early mortality. Several limitations were noted in the available data, particularly for SCD mortality in adults.
The number of individuals with SCD in the U.S. may approach 100,000, even when accounting for the effect of early mortality on estimations. A paucity of high-quality data limits appropriate estimation. State-to-state variability may preclude application of state-specific information to other states or to the nation as a whole. Standardized collection and centralized reporting, a surveillance system, will be necessary to assess the size and composition of the U.S. SCD population.
美国镰状细胞病（SCD）患者人数不详。通过对代表性的 SCD 人群进行疾病负担、医疗保健问题和政策的评估，才能最好地确定疾病负担。
利用最近的美国人口普查和高危人群的出生队列 SCD 患病率，通过对血红蛋白病的普遍新生儿筛查进行集中报告，更新 SCD 人群估计值，努力展示早期死亡率的潜在影响。
根据 2008 年美国人口普查，利用国家新生儿筛查信息系统（National Newborn Screening Information System）提供的总、非裔美国人和西班牙裔出生队列疾病患病率，对全国和各州的 SCD 人群进行估计。利用疾病控制与预防中心（CDC）的压缩死亡率报告和已发表的患者队列生存信息，对镰状细胞贫血的早期死亡率进行校正。
根据出生队列疾病患病率，全国 SCD 人群估计值在 104000 至 138900 之间，但校正早期死亡率后为 72000 至 98000。在可用数据中，特别是成人 SCD 死亡率方面，存在几个局限性。
即使考虑到早期死亡率对估计值的影响，美国 SCD 患者人数可能接近 10 万。高质量数据的缺乏限制了适当的估计。各州之间的差异可能使各州特定的信息无法应用于其他州或整个国家。标准化收集和集中报告、监测系统将是评估美国 SCD 人群规模和构成所必需的。
