Diagnostic accuracy of hematological indices and logistic regression for β-thalassemia carrier screening in children
Medicine (United States), cilt.105, sa.10, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 105 Sayı: 10
- Basım Tarihi: 2026
- Doi Numarası: 10.1097/md.0000000000047953
- Dergi Adı: Medicine (United States)
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals
- Anahtar Kelimeler: logistic regression, Mentzer index, red cell indices, ROC curve, beta-thalassemia trait
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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 < .001). The Mentzer index (≤11.97) achieved optimal performance with 93.5% sensitivity and 88.1% specificity. A combined diagnostic rule using 3 parameters (MCV ≤ 62.45 fL, Mentzer ≤ 11.97, and RDW > 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.