Advances in Detection of Hemoglobinopathies

Hemoglobin disorders are recognized as one of the most common inherited diseases worldwide. Detecting and characterizing variant hemoglobins and thalassemias depends primarily on clinical laboratory methods. Multiple biophysical, biochemical, and genetic assays are available to provide phenotypic or genotypic evidence of pathology. For many years conventional slab-gel electrophoresis and HPLC were the most commonly utilized laboratory methods. However, the field has rapidly expanded to regularly include capillary zone electrophoresis, molecular assays, and, more recently, mass spectrometric assays. Interpretation of these techniques is, in general, complicated because of the involvement of multiple polymorphic genes. Proper characterization of hemoglobin variants is necessary for diagnosis, primary prevention and genetic counseling for underlying disorders. This review provides an overview of the current hemoglobin analysis techniques, and also discusses technologies that have potential to translate into widespread clinical settings.