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Title: Identification of one or two α-globin gene deletions by isoelectric focusing electrophoresis. Author: Agarwal AM, Nussenzveig RH, Hoke C, Lorey TS, Greene DN. Journal: Am J Clin Pathol; 2013 Sep; 140(3):301-5. PubMed ID: 23955447. Abstract: 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.[Abstract] [Full Text] [Related] [New Search]