Sickle-cell disease not identified by newborn screening because of prior transfusion
Sickle-cell disease not identified by newborn screening because of prior transfusion
复制标题
DOI：
10.1016/s0022-3476(00)70110-7
复制
发表时间：
2000-02-01
影响因子：
5.1
通讯作者：
Vichinsky, EP
中科院分区：
文献类型：
--
作者：
Reed, W;Lane, PA;Vichinsky, EP
输注红细胞会影响新生儿筛查中镰状细胞病、半乳糖血症或生物素酶缺乏症的检测。我们报告了4例因新生儿输血而延迟诊断的SCD婴儿。在两个病例中，最初的新生儿筛查显示没有血红蛋白S。在任何情况下，推荐的筛查都不会大于或等于从最后一次输血开始的120天。两名儿童在确诊前有明显的SCD相关发病率。
Erythrocyte transfusion can impair detection of sickle-cell disease, galactosemia, or biotinidase deficiency with newborn screening. We report on 4 infants with SCD in whom delayed diagnosis was associated with neonatal transfusion. In 2 cases, the initial newborn screening showed no hemoglobin S. In no case was the recommended screening greater than or equal to 120 days from the last transfusion obtained. Two children had significant SCD-related morbidity before diagnosis.