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  • Title: Neonatal screening for α-thalassemia by cord hemoglobin Barts: how effective is it?
    Author: Wu MY, Xie XM, Li J, Li DZ.
    Journal: Int J Lab Hematol; 2015 Oct; 37(5):649-53. PubMed ID: 25955662.
    Abstract:
    INTRODUCTION: It has long been recognized that the hemoglobin (Hb) Bart's in cord blood is an accurate indicator of α-thalassemia and that the level of Hb Bart's was increased accordingly with the increasing numbers of the defective α-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 α-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 α-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 α-thalassemia were diagnosed by DNA analysis. All the 45 cases had only the -α(3.7) deletion genotype. CONCLUSION: For newborns of one α-gene mutation, especially for 3.7-kb deletion, the method based on Hb Bart's is inadequate and is therefore not reliable for screening.
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