Kramer M S, Rooks Y, Johnston D, Pearson H A
JAMA. 1979 Feb 2;241(5):485-6.
The strategic advantages of neonatal diagnosis of sickle hemoglobinopathies depend on an accurate cord blood screening procedure. One hundred thirty-eight black children in whom a range of normal and abnormal hemoglobin genotypes was identified by agar gel and cellulose acetate hemoglobin electrophoresis at birth were retested by cellulose acetate three to five years later. The original cord blood diagnoses were verified in all 138, including all 26 with major sickle syndromes (SS, S-beta thalassemia, and SC). Cord blood hemoglobin electrophoresis using these techniques permits accurate neonatal diagnosis of major and minor sickle hemoglobinopathies.
镰状血红蛋白病新生儿诊断的战略优势取决于准确的脐血筛查程序。138名黑人儿童在出生时通过琼脂凝胶和醋酸纤维素血红蛋白电泳确定了一系列正常和异常血红蛋白基因型,三到五年后通过醋酸纤维素进行了重新检测。138例的原始脐血诊断均得到证实,包括所有26例患有主要镰状综合征(SS、S-β地中海贫血和SC)的患儿。使用这些技术进行脐血血红蛋白电泳可对主要和次要镰状血红蛋白病进行准确的新生儿诊断。