Capillary Electrophoresis for Hemoglobinopathy and Thalassemia Evaluation: A Case-Based Approach

Abstract

Capillary Electrophoresis is one of the newer methods for the detection and evaluation of hemoglobinopathies. It improves upon the alkaline gel electrophoresis platform with a similar migration order, but sharper resolution, better quantitation, and tightly controlled migration such that individual variants can be distinguished from one another by small differences in presentation or migration position. However, it is one of several components of a standard hemoglobinopathy workup. Evaluation of the electrophoretic pattern in the context of confirmatory testing, CBC values, iron studies, peripheral blood smears, and patient history can provide surprising detail and insight into a patient’s diagnosis and clinical condition. The following presentation will demonstrate this through carefully selected clinical cases wherein slight (and in some cases large) deviations from a normal electrophoretic profile are given greater meaning through consideration of the whole patient chart.

Learning Objectives

• Evaluate a typical electrophoretic profile and distinguish whether it is “normal” or “abnormal” based on number of peaks, peak position, and presentation within or outside of normal % ranges.
• Distinguish between several normally encountered clinical conditions or hemoglobinopathies which may drive subtle changes in the electrophoretic pattern outside of “normal” ranges.
• Conclude that an electrophoretic pattern must be assessed in light of all available clinical testing