Hemoglobinopathies are the most common autosomal recessive disorder worldwide, with 7% of the global population carrying an abnormal hemoglobin (Hb) gene. Thus, the screening of hemoglobinopathies and thalassemias is of growing importance.
The laboratory diagnosis of an Hb variant is typically done by a variety of methods using a protein analysis, such as alkaline acid Hb electrophoresis, isoelectric focusing (IEF), and high-performance liquid chromatography (HPLC). A more recent addition has been the application of capillary electrophoresis (CE) for the evaluation of Hb disorders.
After having demonstrated the excellent intra- and interlaboratory reproducibility of the migration positions, both for anodic and cathodic Hb variants, we have combined our data on Hb variants (409 total) to create a more precise library of variants on CAPILLARYS 2 than the one provided by the manufacturer through the migration zones.
Based on the electrophoretic mobility of each Hb variant, this library might be useful for refined presumptive identification of Hb variants.
Rastreio de alterações da hemoglobina
Método de elevada resolução no rastreio de alterações da hemoglobina.
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