Reed W, Lane P A, Lorey F, Bojanowski J, Glass M, Louie R R, Lubin B H, Vichinsky E P
Children's Hospital Oakland, Department of Hematology/Oncology, Oakland, CA 94609, USA.
J Pediatr. 2000 Feb;136(2):248-50. doi: 10.1016/s0022-3476(00)70110-7.
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 >/=120 days from the last transfusion obtained. Two children had significant SCD-related morbidity before diagnosis.
红细胞输血会影响新生儿筛查对镰状细胞病、半乳糖血症或生物素酶缺乏症的检测。我们报告了4例镰状细胞病患儿,其诊断延迟与新生儿期输血有关。其中2例患儿最初的新生儿筛查未显示血红蛋白S。在任何情况下,均未在距上次输血≥120天进行推荐的筛查。2名儿童在诊断前出现了与镰状细胞病相关的严重发病情况。