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Updated: Jun 27, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Sickle Cell Disease Related Vasculopathies and Early Evaluation in a Pediatric Population
Daniel E Panosyan1, William S Panosyan1, Ismael Corral2
1University of California Los Angeles, UCLA College of Letters & Science, Los Angeles, CA, U.S.A.
Insights
Sickle cell disease vasculopathies (SCDVs) often begin in childhood, indicated by early surrogate markers. Intense screening in youth is crucial for managing SCDVs and preventing progression.
Area of Science:
- Pediatric Hematology
- Cardiovascular Medicine
- Nephrology
Background:
- Cardiovascular pathologies are common in sickle cell disease (SCD).
- A literature review compared SCD vasculopathies (SCDVs) to the general population.
- Pediatric SCDVs were investigated retrospectively.
Purpose of the Study:
- To compare the epidemiology of SCDVs with the general population.
- To investigate SCDVs in a pediatric cohort.
- To identify early indicators of SCDVs in children.
Main Methods:
- Studied SCDVs in relation to patient age, β-globin genotypes, and fetal hemoglobin (HbF).
- Analyzed urine microalbumin/creatinine ratios (UM/Cr), trans-cranial Doppler (TCD), and tricuspid regurgitant jet velocities (TRJV).
- Descriptively presented retinographies and overt vasculopathies.
Main Results:
- Age-dependent trends and surrogate markers suggest early SCDV origination.
- Higher TRJV and overt vasculopathy correlated with older age and lower HbF.
- Cerebral, cardiopulmonary, and renal vasculatures evolved independently in a subpopulation.
Conclusions:
- Overt SCDVs are less frequent in children but show early trends.
- Age-dependent markers indicate early onset of SCDVs in youth.
- Intense screening is justified to prevent SCDV progression with disease-modifying treatments.
Background/Aim:
Cardiovascular pathologies are ubiquitous in sickle cell disease (SCD). A targeted literature review was conducted to compare the overall epidemiology of selected vasculopathies seen in SCD (SCDVs) compared to the general population. Since many SCDV may originate in childhood, the study also focused on the retrospective investigation of SCDVs in a pediatric cohort at the Harbor-UCLA Medical Center.
Patients And Methods:
SCDVs were studied along patient age, β-globin genotypes, and fetal hemoglobin (HbF). Urine microalbumin/creatinine ratios (UM/Cr), trans-cranial doppler (TCD) and tricuspid regurgitant jet velocities (TRJV) were analyzed as well. Retinographies and overt vasculopathies were presented descriptively.
Results:
Among 20 females and 20 males [average 8.3 years (2.3-19 years)], 70% had HbSS/Sβ0, 22.5% HbSC and 7.5%-HbSβ+. The mean(±SD) HbF% was 17.4±12.7% (30% higher in <10 vs. ≥10 y/o, and 3 times higher in SS/Sβ0). Twenty-six patients received hydroxyurea and 13/26, L-glutamine. Thirty-six patients had TCDs within 1.4±0.9 years and all laboratory values were obtained within the last 12 months. TCDs showed low-normal velocities, but 2 were higher for HbSS/Sβ0 vs. HbSC/Sβ+ (MCA-96 vs. 86 cm/s, p=0.03; and PCA-50 vs. 41, p<0.001). Nineteen of 28 patients with echocardiograms had measurable TRJV (2.46±0.19 m/s); 9 had TRJV ≥2.5-2.8 m/s, but BNP ≤80 pg/ml. SS/Sβ0 was associated with higher UM/Cr. There were 2 cases with silent infarcts, 1-Moyamoya, 2-persistent macroalbuminuria, and 1-hematuria/renal papillary necrosis. Most ≥9 y/o patients had retinographies without SCD-related changes. There was no correlation among TCD (MCA), TRJV, and UM/Cr (n=17); thus, in this subpopulation, pathologies of cerebral, cardiopulmonary, and renal vasculatures evolved independently. Patients with higher TRJV and/or overt vasculopathy (n=14) were older than ones without (12.5±4.7 vs. 6.1±3.1 y/o, p<0.001), and had lower HbF (11.4±7.6 vs. 20.6±13.8%, p=0.026).
Conclusion:
While overt SCDVs are less frequent in children, age-dependent trends/surrogate markers suggest their early origination in youth, justifying intense screening to prevent their progression with disease-modifying measures.
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