Identification of one or two α-globin gene deletions by isoelectric focusing electrophoresis

American Journal of Clinical Pathology
Archana M AgarwalDina N Greene


To investigate the utility of isoelectric focusing electrophoresis (IEF) for identifying patients with α-thalassemia, which results from the deletion of 1 or more of the α-globin genes. Samples were selected based on their hemoglobin H (HbH) concentration observed using IEF. The samples were analyzed for the most common α-globin gene deletions using molecular analysis. α-Globin gene deletions corresponding to α-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. Low concentrations of HbH can be detected in a patient with 1 or 2 α-gene deletions using IEF.


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Related Concepts

Hemoglobin H
Isoelectric Focusing
Gene Deletion
Alpha-2 Globin
Gene Deletion
Isoelectric Focusing

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