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

Objectives: To investigate the utility of isoelectric focusing electrophoresis (IEF) for identifying patients with alpha-thalassemia, which results from the deletion of 1 or more of the alpha-globin genes. Methods: Samples were selected based on their hemoglobin H (HbH) concentration observed using IEF. The samples were analyzed for the most common alpha-glob in gene deletions using molecular analysis. Results: alpha-Globin gene deletions corresponding to alpha-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 alpha-gene deletions using IEF.