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Testing the Accuracy of Administrative Case Definitions to Identify Thalassemia
Angela B Snyder1,2, Mei Zhou2, Jhaqueline Valle3
1Department of Public Management and Policy, Andrew Young School of Policy Studies, Georgia State University, Atlanta, GA, USA.
Public Health Reports (Washington, D.C. : 1974)
|January 28, 2026
Summary
Identifying patients with thalassemia using administrative claims data is feasible. Case definition 3 showed the highest accuracy for transfusion-dependent thalassemia, though nontransfusion-dependent cases remain challenging to define.
Area of Science:
- Hematology
- Public Health
- Health Informatics
Background:
- Thalassemia prevalence in the U.S. requires accurate estimation for healthcare planning.
- Administrative data offers a potential source for identifying affected individuals.
- Current methods for identifying thalassemia patients in large datasets are insufficient.
Purpose of the Study:
- To develop and evaluate administrative case definitions for identifying individuals with thalassemia.
- To assess the predictive value of claims-based case definitions using Medicaid data.
- To inform strategies for estimating national thalassemia prevalence.
Main Methods:
- Retrospective analysis of Medicaid administrative data (2012-2019).
- Evaluation of three claims-based case definitions for thalassemia identification.
- Validation against laboratory assessment and expert clinical review as the gold standard.
Main Results:
- Of 327 identified individuals, 52.9% had confirmed thalassemia.
- Case definition 3 (≥2 thalassemia codes & same encounter transfusion code) yielded the highest positive predictive value (82%-96%).
- Nontransfusion-dependent thalassemia cases were difficult to precisely define using administrative data.
Conclusions:
- Administrative claims data can be used to accurately identify patients with thalassemia.
- The developed case definitions, particularly definition 3, show promise for estimating transfusion-dependent thalassemia prevalence.
- Further refinement is needed to precisely capture nontransfusion-dependent thalassemia cases.
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