Newborn Sickle Cell Screening in a Region of Western New York State
Newborn Sickle Cell Screening in a Region of Western New York State
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DOI：
10.1016/j.jpeds.2008.06.039
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发表时间：
2009-01-01
影响因子：
5.1
通讯作者：
LaBella, Sandra
中科院分区：
文献类型：
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作者：
Lerner, Norma B.;Platania, Bridget L.;LaBella, Sandra
目的探讨镰状细胞病（SCD）和血红蛋白（Hb） S特征的发病趋势。血红蛋白病的临床随访和队列死亡率也进行了评估。研究设计回顾了一项长期的新生儿血红蛋白病筛查计划。发病率计算的信息来自保密数据库、专科诊所/医院数据和当地出生统计数据。结果27年以上。活产黑人新生儿中乙型肝炎SS的发病率为0.163%或1 / 615。18年后，Hb AS的发病率为8.5%或11.8 / 1。随着时间的推移，Hb SS、Hb AS和S等位基因的发病率没有显著差异。专科门诊随访改善。18岁前死亡的SCD病例有6例（2.8%；死亡率为0.23 / 100患者年）。结论：当地筛查活动可能对SCD专科护理的参与和疾病相关死亡率有影响。在过去的27年中，Hb SS的发病率没有变化，Hb S性状和S等位基因的发病率在过去的18年中没有受到影响。应该重新评估特征通知的目标和方法。
Objectives To assess local trends in the incidence of sickle cell disease (SCD) and hemoglobin (Hb) S trait. Hemoglobinopathy clinic follow-up and cohort mortality rates were also evaluated.Study design A longstanding newborn hemoglobinopathy screening program was reviewed. Incidence rates were computed with information from a confidential database, specialty clinic/hospital data, and local birth statistics.Results Over 27 years. the incidence of Hb SS in live black births was 0.163% or 1 in 615. Over 18 years, the incidence of Hb AS was 8.5% or 1 in 11.8. No significant differences in the incidence of Hb SS, Hb AS, and the S allele were found over time. Specialty clinic follow-up improved. Death before age 18 years was documented for 6 SCD cases (2.8%; mortality rate of 0.23 per 100 patient years).Conclusions Local screening activities may have had an impact on participation in specialized SCD care and the disease-associated mortality rate. The incidence of Hb SS has remained unchanged over 27 years, and that of Hb S trait and the S allele has been unaffected in the last 18 years. Trait notification goals and approaches should be reevaluated.