This study aimed to evaluate whether β-thalassemia trait can be diagnosed without hemoglobin electrophoresis by assessing the diagnostic performance of complete blood count parameters (mean corpuscular volume MCV, red cell distribution width RDW, and Mentzer index), transferrin saturation, and derived indices in anemic pediatric patients, using hemoglobin electrophoresis as the reference standard. A retrospective observational cross-sectional study was conducted on 558 children (1 month-18 years) who underwent hemoglobin electrophoresis between 2019 and 2025. Hematological parameters, iron status, and family history were analyzed. Patients were classified as normal electrophoresis, β-thalassemia carrier, major, or intermedia according to guidelines. Receiver operating characteristic analysis determined cutoffs, and a logistic regression model was developed and validated (80% training, 20% testing, Hosmer-Lemeshow P = .62, bootstrap n = 1000). Among 550 analyzed patients, β-thalassemia carrier prevalence was 25.1%. Carriers showed significantly lower MCV (57.07 ± 4.93 vs 70.08 ± 7.08 fL) and higher RDW (18.57 ± 2.62 vs 15.00 ± 2.39%) compared to controls (P 16.45%) markedly improved specificity to 98.3% and positive predictive value to 93.5%. The logistic regression model achieved 95.5% overall accuracy. Positive family history was significantly associated with carrier status (23.1% vs 7.5%, P < .001). Simple complete blood count-derived indices offer reliable, cost-effective screening for β-thalassemia carriers, potentially reducing unnecessary electrophoresis testing by 60% to 70% in resource-limited settings.
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Zeynep Üze Okay
Berker Okay
Sağlık Bilimleri Üniversitesi
University of Health Science
University of Health Sciences Antigua
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Okay et al. (Fri,) studied this question.
www.synapsesocial.com/papers/69ada8a1bc08abd80d5bbced — DOI: https://doi.org/10.1097/md.0000000000047953