A Retrospective Analysis of Confirmed and Suspected Cases of Thalassemia among Filipino Patients at a Primary Care Clinic, Hawaii

Abstract

Aims: Thalassemia remains an underrecognized condition in the Filipino population despite increasing awareness in the medical community and advances in diagnostics. This retrospective chart review aims to characterize the spectrum of suspected thalassemia cases among Filipinos, and to identify the proportion of cases confirmed through electrophoresis (ELP) and/or genetic testing. Study Design: Retrospective review of electronic health records. Place and Duration of Study: Filipino patients seen during June 1, 2020, and June 30, 2025 at a multi-site primary care practice in Hawai‘i. Methodology: Electronic health records were screened for low mean corpuscular volumes (MCV). These records were further examined for exclusions: non-Filipino ethnicity, anemia due to iron deficiency, chronic kidney disease or other conditions accounting for microcytosis, and incomplete data. Results: Out of 2,671 patients initially screened, 779 were included after exclusions. Among these, only 30 cases (3.9%) were confirmed to have thalassemia, most commonly alpha thalassemia trait (n=16), followed by beta trait (n=7), hemoglobin H disease (n=5), and alpha thalassemia carrier state (n=2). Conclusion: These findings underscore the need for broader confirmatory testing of suspected cases of thalassemia among Filipinos, especially amongst the reproductive-age population. Future prospective studies are in order, particularly in light of emerging therapies.