Mayo Study Finds Gaps in Carrier Diagnosis Records
Researchers using genetic data from nearly 50,000 participants found mismatches between carrier traits and existing diagnosis codes for two inherited blood disorders.
Updated on Nov. 2, 2026 in Life Sciences
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Mayo Clinic researchers identified carrier traits for sickle cell anemia and beta-thalassemia at clinically significant levels using genetic data from nearly 50,000 participants. The study, published in Mayo Clinic Proceedings, found many carriers lacked a matching diagnosis code in their electronic health records.
Why it matters
Carrier status can affect pregnancy planning, since two carriers may pass a serious blood disorder to a child. Because some adults were born before comparable newborn screening existed, carrier status may go unrecognized without genetic testing or clear clinical guidance.
Genetic testing identified 116 sickle cell trait carriers and 98 beta-thalassemia carriers within the Tapestry cohort, but only 19 and 47 of them, respectively, had a matching diagnosis code. The authors say the reasons for these mismatches are not yet fully understood and require further study.
The players
Mayo Clinic
A major nonprofit academic medical center based in Rochester, Minnesota, known for its research programs and patient care.
The details
Researchers analyzed genetic data from nearly 50,000 participants for variants linked to sickle cell trait and beta-thalassemia trait, then compared those findings with diagnosis codes in participants' electronic health records. The Tapestry initiative at Mayo Clinic enrolled more than 98,000 participants between July 2020 and May 2024.
Timeline
Tapestry enrolled participants between July 2020 and May 2024.
Findings were published in Mayo Clinic Proceedings on November 2, 2026.
Big Picture
All U.S. states already screen newborns for clinically significant hemoglobinopathies such as sickle cell disease, but carrier identification for adults born before those programs has varied in practice, especially for thalassemias. This study points to a gap that current newborn screening rules do not fully address.
Adults who may be carriers of sickle cell or thalassemia traits could ask their primary care clinician about testing, particularly before planning a pregnancy. The authors suggest primary care clinicians may be well positioned to identify people who could benefit from testing.
The takeaway
Carrier status for inherited blood disorders may be missing from health records, so asking a clinician about carrier testing before pregnancy can close that gap. Clearer guidance for identifying carriers is an emerging need in primary care.
Further reading
Explore more in Life Sciences for context on how genetic research is changing medical understanding.
More information
Learn more through the Mayo Clinic Precure Research initiative information page.
Source note: This article includes information reported by Technology Networks.
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