Concurrent DNA may be the right way

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.

What did we find?

  • Approximate 5% positivity rate for hemoglobinopathy carriers in the general population.1
  • 59% of individuals identified as ‘possible alpha-thalassemia carriers’ based on abnormal MCV/MCH were not confirmed by DNA analysis.1
  • 13% of individuals with no indication of alpha-thalassemia trait, but with abnormal genotyping, were identified as silent alpha-thalassemia carriers.1
  • Concurrent testing could lead to more accurate results, improved wait time for patients, and identification of more carriers.

Poster

This research was presented at the 2019 American College of Obstetricians and Gynecologists (ACOG) Annual Meeting.

Download the poster

References

  1. Adamski et al. Hemoglobinopathy evaluation in routine carrier testing: Results to inform guidelines and protocols. Poster presented at American College of Obstetricians and Gynecologists (ACOG) Annual Conference, 2019. Nashville, TN.

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