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Updated: Sep 10, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Sickle cell retinopathy in pediatric patients: exploring correlations and predictive factors
Nuno Rodrigues Alves1, Catarina Barão2, Patrícia Barros Silva2
1Department of Ophthalmology, Unidade Local de Saúde de São José, Lisbon, Portugal. nuno.al113@gmail.com.
Purpose:
To analyze clinical, laboratory, and Doppler vascular parameters in pediatric sickle cell disease (SCD) patients and identify correlations and predictive factors for sickle cell retinopathy (SCR) and proliferative SCR (PSR).
Methods:
A retrospective study included pediatric SCD patients screened for SCR between December 2023 and August 2024. Systemic, transcranial-cervical Doppler, and ophthalmologic evaluations were performed. Correlation analyses explored relationships between clinical, laboratory, and ophthalmologic parameters and SCR. Logistic regression identified predictive factors for SCR and PSR.
Results:
We included 172 eyes from 86 pediatric SCD patients (mean age: 11.1 years; 57% male). SCR was diagnosed in 20 patients (23.3%), including 15 with non-proliferative (NPSR) and 5 with PSR. SCR correlated significantly with higher vaso-occlusive crises (VOC) frequency (ρ = 0.379, p < 0.001), lower fetal hemoglobin (HbF) (ρ = -0.363, p = 0.001), older age (r = 0.295, p = 0.006), and glucose-6-phosphate dehydrogenase (G6PD) deficiency (ρ = 0.428, p < 0.001). Doppler evaluations showed reduced velocities associated with SCR (p < 0.05). Logistic regression identified G6PD deficiency (OR = 8.34, p = 0.014), increased VOC (OR = 2.22, p = 0.011), older age (OR = 1.26, p = 0.04), and lower HbF (OR = 0.89, p = 0.047) as predictors of SCR. An age cut-off of 11.5 years yielded 65% sensitivity and 64% specificity. For PSR, significant correlations included SC genotype (r = 0.728, p < 0.001) and higher hemoglobin (Hb) (r = 0.518, p = 0.019). Lower hydroxyurea doses were linked to PSR (r = -0.548, p = 0.012). Hb levels predicted PSR, with a 9.2 g/dL cut-off (80% sensitivity, 86% specificity).
Conclusion:
Early detection of SCR is crucial in pediatric SCD patients. Key risk factors include older age (cut-off 11.5 years), higher VOC frequency, G6PD deficiency, and lower HbF for SCR, and SC genotype, reduced hydroxyurea doses, and higher Hb (cut-off 9.2 g/dL) for PSR. Regular ophthalmologic screening and targeted management may help prevent vision loss and improve clinical outcomes.
