Population Genetic Screening of Hemoglobinopathy Carrier Prevalence Compared to Medical Records

To better understand the gap between hemoglobinopathy (HBP) prevalence and that which is documented in electronic medical records (EMRs) to quantify genetic HBP carrier prevalence compared to case counts documented in the EMR.

We used genetic data from the Tapestry study to quantify the prevalence of HBPs and carrier traits, targeting sickle cell disease and β-thalassemia. Genetic findings were compared with International Classification of Diseases, 10^th Revision (ICD-10) codes for hemoglobinopathies (D56 for β-thalassemia and D57 for SCD).

A total of 50,008 participants were included in the genetic analysis. Twelve participants with diagnosis codes for α-thalassemia and sickle cell disease were previously confirmed with genetic results leaving 49,996 individuals. Of those, 116 participants' (0.23%) genetic testing demonstrated heterozygosity for sickle cell trait, and a majority self-reported Black ancestry (75%). Most (n=97 of 116) did not carry a sickle cell ICD-10 diagnosis code. There were 98 (0.20%) participant carriers for β-thalassemia with White ancestry most common (80.6%), followed by Asian ancestry (15.3%). Only 47 (48.0%) had a β-thalassemia ICD-10 diagnosis code.

Our findings demonstrate that sickle cell and β-thalassemia carrier traits are prevalent at clinically significant levels and are substantially under-represented in EMRs. This gap raises important public health concerns, as under-identification may lead to missed opportunities for early diagnosis, reproductive counseling, and preventive care. These results highlight the need for enhanced public health efforts and primary care engagement to improve detection and equitable management of hemoglobinopathies.