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


METHODS
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.


RESULTS
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.


CONCLUSIONS
Low concentrations of HbH can be detected in a patient with 1 or 2 α-gene deletions using IEF.
['Agarwal|Archana M|AM|', 'Nussenzveig|Roberto H|RH|', 'Hoke|Carolyn|C|', 'Lorey|Thomas S|TS|', 'Greene|Dina N|DN|']
D000293:Adolescent D000328:Adult D000368:Aged D002648:Child D002675:Child, Preschool D005260:Female D017353:Gene Deletion D005838:Genotype D006447:Hemoglobin H D006801:Humans D007223:Infant D007525:Isoelectric Focusing D008297:Male D008875:Middle Aged D055542:alpha-Globins D017085:alpha-Thalassemia
Isoelectric focusing α-Thalassemia Hemoglobin H HbH