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Mayo Clinic researchers have found that genetic testing can help identify people who carry inherited blood disorder traits, including individuals who may not otherwise know their carrier status. Earlier identification can create opportunities for genetic counseling, informed family planning and appropriate clinical follow-up.

Using genetic data from nearly 50,000 participants, Mayo Clinic researchers identified carrier traits for sickle cell anemia and beta-thalassemia at clinically significant levels. Published in Mayo Clinic Proceedings, the study shows how population-scale genetic testing may complement existing screening approaches and provide patients and clinicians with additional information about inherited health risks.

"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," says Nathaniel Miller, M.D., a Mayo Clinic family medicine physician and first author of the study.

Screening practices have evolved over time. All U.S. states screen newborns for clinically significant hemoglobinopathies such as sickle cell disease, but practices for identifying and reporting carrier status have varied, particularly for thalassemias. Some adults also were born before comparable newborn screening was available. The findings illustrate how genetic testing later in life may provide health information that was not available earlier.

Sickle cell anemia and beta-thalassemia are hemoglobinopathies—inherited disorders that affect hemoglobin, the protein in red blood cells that carries oxygen throughout the body.

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