Not all carriers of alpha-thalassemia have the same disease transmission outcomes. Read more about how the ethnicity with the highest carrier frequency is not the ethnicity with the highest risk of having an affected child.
The purpose of this study was to identify which ethnic population carriers of alpha-thalassemia are at the highest risk of disease transmission and if there is value in pan-ethnic testing to identify alpha-thalassemia carriers.
We performed a retrospective analysis of >75,000 patients referred to our laboratory for Preparent® carrier testing. Testing included multiplex PCR followed by gel electrophoresis and analysis to identify 7 common α-globin deletions, including -α3.7, -α4.2, --SEA, --FIL, --MED, --α20.5, and --THAI.