Diagnosis of the β0Thalassemia Trait at Birth

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Abstract
In vitro globin chain synthesis was analyzed in 33 infants previously evaluated for the presence of thalassemia in the 2nd trimester of gestation. These infants were restudied after the stage of hematological maturity. Four children with .alpha.-thalassemia-1, identified in a newborn screening, were included. Normals and .beta.-thalassemia heterozygotes were distinguished in the neonatal period by .beta./.alpha. or .beta./.gamma. ratios. As a considerable overlap of .alpha.-thalassemia-1 with normals and .alpha.-thalassemia-2 with .beta.-thalassemia heterozygotes were found, biosynthetic studies at birth seem to be inappropriate to make reliable diagnosis of Hb chain deficiencies. There were no differences between hematological indices of normal and heterozygous .beta.-thalassemia newborns; .alpha.-thalassemia-1 carriers showed a statistically significant difference from normals in mean MCV [mean corpuscular volume] and MCH [mean corpuscular Hb].