Identification of One or Two α-Globin Gene Deletions by Isoelectric Focusing Electrophoresis

Abstract

Objectives: To investigate the utility of isoelectric focusing electrophoresis (IEF) for identifying patients with a-thalassemia, which results from the deletion of 1 or more of the a-globin genes. Methods: Samples were selected based on their hemoglobin H (HbH) concentration observed using IEF. The samples were analyzed for the most common a-globin gene deletions using molecular analysis. Results: a-Globin gene deletions corresponding to a-thalassemia trait or silent carrier were observed in all samples with the HbH less than 2% phenotype. The genotypes of the specimens with HbH greater than 5% were consistent with HbH disease, while the wild-type phenotype control samples showed a wild-type genotype. Conclusions: Low concentrations of HbH can be detected in a patient with 1 or 2 a-gene deletions using IEF. © American Society for Clinical Pathology. © American Society for Clinical Pathology.