DETECTION OF HB E/BETA-THALASSEMIA VERSUS HOMOZYGOUS EE USING HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY RESULTS FROM NEWBORNS

The influx of Southeast Asian immigrants into California over the past few years has resulted in a dramatic increase of Hb E disorders detected in newborn screening. Initial hemoglobin patterns of FE do not distinguish between homozygous EE, a benign state, and E/β-thalassemia, a clinically significant disorder which is frequently transfusion-dependent. Since language and cultural customs frequently prevent parent testing which can rule out the thalassemic disorder, and diagnosis in the neonate is not possible by traditional red cell indices and is relatively expensive by DNA methodology, an alternate screening method is proposed. This study investigated the Hb F and Hb E relative percentages obtained in the newborn′s high-performance liquid chromatography result, and found that the percentage of Hb E was markedly lower in neonates with Hb E/β-thalassemia versus those which were homozygous EE. Likewise, the F/E ratios were different in the E/β-thalassemia group versus the EE group. This analysis can at least minimize the number of DNA tests required, and with more E/β-thalassemia case data, may prove to be a reliable substitute. © 1993 Academic Press. All rights reserved.