Genetic Screening Can ID Hemoglobinopathy Prevalence

MONDAY, Nov. 9, 2026 (HealthDay News) — Genetic testing can help identify hemoglobinopathy (HBP) carrier prevalence earlier, according to a study published online Oct. 27 in Mayo Clinic Proceedings.

Nathaniel E. Miller, M.D., from the Mayo Clinic in Rochester, Minnesota, and colleagues used genetic data for participants from the Tapestry study to quantify the prevalence of HBPs and carrier traits compared to case counts documented in the EMR. The genetic analysis included 50,008 participants; 12 participants with diagnosis codes for α-thalassemia and sickle cell disease were previously confirmed with genetic results, leaving a total of 49,996 individuals.

The researchers found that genetic testing demonstrated heterozygosity for sickle cell trait in 116 of the participants (0.23 percent), and a majority (75 percent) self-reported Black ancestry. Ninety-seven of the 116 did not carry an International Classification of Diseases, 10th Revision (ICD-10) sickle cell diagnosis code. Ninety-eight (0.20 percent) were carriers for β-thalassemia, with White ancestry most common, followed by Asian ancestry (80.6 and 15.3 percent, respectively). A β-thalassemia ICD-10 diagnosis code was seen in 47 participants (48.0 percent).

“If we can identify carrier status earlier, we have more opportunities for reproductive counseling, appropriate preventive care, and helping patients understand what these findings may mean for their families,” Miller said in a statement.

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