AI Article Synopsis
- The study aimed to see how effective isoelectric focusing electrophoresis (IEF) is for identifying patients with α-thalassemia, which is caused by the loss of alpha-globin genes.
- Samples were analyzed based on their hemoglobin H (HbH) levels, and molecular analysis was performed to detect common α-globin gene deletions.
- Results showed that low HbH levels indicate the presence of α-thalassemia traits, while higher levels are indicative of HbH disease, demonstrating IEF's usefulness in diagnosing this condition.
Article 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.
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| http://dx.doi.org/10.1309/AJCPF4UIJKH3EOBY | DOI Listing |
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