Guidelines for identifying hemoglobinopathy carriers recommend genotyping only for certain patients. But these results show that concurrent testing may be the way to go.
Limited data exists estimating the positivity rates for carrier status of hemoglobinopathies in the United States general population. The goals of this study were to estimate a general population positivity rate and determine if concurrent DNA analysis could be of benefit, versus current reflexive testing recommendations.
We performed a retrospective analysis of >42,000 patients referred to our laboratory for hemoglobin evaluation.