Genetic Screen or E-phoresis For Hemoglobinopathy? Is One Better Than the Other?

We recently had a patient in our OB high-risk community clinic whose maternal carrier screen result was either late or lost. Thinking the test may be lost, another resident ordered hemoglobin electrophoresis. The electrophoresis was NEGATIVE (that is, no abnormal hemoglobin was found at detectable levels)…by the way, good for that resident! After calling the lab for the genetic screen and not getting a clear answer from that location, they had the self- initiative in ordering a back-up test. AND TURNS OUT: this was a GREAT educational opportunity as the results from these two tests were discordant: the maternal carrier screening panel returned the day after and was POSITIVE for alpha thalassemia trait. So, which is better? Hgb electrophoresis (once considered the clinical gold standard over CBC with indices) or molecular testing? Let’s explore the data in this episode.