Diagnosis of the β⁰ Thalassemia Trait at Birth

Abstract

This study shows the results of in vitro globin chain synthesis analysis in 33 infants who had been previously evaluated for the presence of thalassemia in the second trimester of gestation and were restudied after the stage of hematological maturity. Four children with α-thalassemia-1, identified in a newborn screening, were also included. Normals and β-thalassemia heterozygotes could be distinguished in the neonatal period by β/α or β/γ ratios. However, as a considerable overlap of α-thalassemia-1 with normals and α-thalassemia-2 with β-thal-assemia heterozygotes were found, biosynthetic studies at birth seem to be inappropriate to make reliable diagnosis of hemoglobin chain deficiences. There were no differences between hematological indices of normal and heterozygous β-thalassemia newborns, while α-thalassemia-l carriers showed a statistically significant difference from normals in mean MCV and MCH.