Sequence-based Diagnosis of Hemoglobinopathies in the Clinical Laboratory

Electrophoresis at alkaline and acid pH values is the most widely used method for screening for hemoglobinopathies in the clinical laboratory. Nevertheless, the method does not provide definitive diagnostic information for a number of hemoglobins. New automated DNA sequencing techniques make it possible to definitively identify mutations which cause hemoglobinopathies. Moreover these techniques take about the same time as it takes to perform hemoglobin electrophoresis and globin chain electrophoresis. Although the reagent cost is somewhat higher, the results are definitive.