Identification of one or two α-globin gene deletions by isoelectric focusing electrophoresis. 2013

Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
Department of Pathology, University of Utah Health Sciences, Salt Lake City, UT, USA.

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007525 Isoelectric Focusing Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point. Electrofocusing,Focusing, Isoelectric
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006447 Hemoglobin H An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
January 2012, Methods in molecular biology (Clifton, N.J.),
Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
January 2019, Methods in molecular biology (Clifton, N.J.),
Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
January 2009, Methods in enzymology,
Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
January 1979, Journal of biochemical and biophysical methods,
Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
January 1978, Annals of clinical and laboratory science,
Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
January 1990, Voprosy meditsinskoi khimii,
Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
January 1985, Laboratornoe delo,
Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
January 2014, Hemoglobin,
Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
October 1992, Analytical biochemistry,
Archana M Agarwal, and Roberto H Nussenzveig, and Carolyn Hoke, and Thomas S Lorey, and Dina N Greene
August 1991, Analytical biochemistry,
Copied contents to your clipboard!