Neonatal screening for alpha-thalassemia by cord hemoglobin Barts: how effective is it?

作者：Wu, M-Y; Xie, X-M; Li, J.; Li, D-Z^*

来源：International Journal of Laboratory Hematology, 2015, 37(5): 649-653.

DOI：10.1111/ijlh.12376

• alpha-Thalassemia
• hemoglobin Bart's
• capillary electrophoresis
• newborns
• screening

Introduction: It has long been recognized that the hemoglobin (Hb) Bart's in cord blood is an accurate indicator of alpha-thalassemia and that the level of Hb Bart's was increased accordingly with the increasing numbers of the defective alpha-genes.
Methods: This study used an automatic capillary electrophoresis system to determine the Hb Bart's levels in cord blood. Molecular analyses were used to detect various genotypes of alpha-thalassemia.
Results: Sixty-nine of the total 1169 newborns were found to have an increased Hb Bart's in cord blood, in whom the diagnosis of alpha-thalassemia was confirmed by the DNA analysis. The remaining 1100 newborns had no detectable Hb Bart's at birth; among these, 45 carriers of silent alpha-thalassemia were diagnosed by DNA analysis. All the 45 cases had only the - alpha(3.7) deletion genotype.
Conclusion: For newborns of one alpha-gene mutation, especially for 3.7-kb deletion, the method based on Hb Bart's is inadequate and is therefore not reliable for screening.

• 出版日期2015-10
• 单位广州医科大学; 广州市妇女儿童医疗中心