title: Identification of one or two α-globin gene deletions by isoelectric focusing electrophoresis.
abstract: OBJECTIVE
  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.
authors: Department of Pathology, University of Utah Health Sciences, Salt Lake City, UT, USA.
authors: Archana M
authors: AM
authors: Agarwal
authors: Roberto H
authors: RH
authors: Nussenzveig
authors: Carolyn
authors: C
authors: Hoke
authors: Thomas S
authors: TS
authors: Lorey
authors: Dina N
authors: DN
authors: Greene
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006447:Hemoglobin H / Q000235:genetics*; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D008297:Male; D008875:Middle Aged; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D055542:alpha-Globins; D006447:Hemoglobin H
keywords: HbH; Hemoglobin H; Isoelectric focusing; α-Thalassemia