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Updated: May 4, 2026

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
The current state of imaging pediatric hemoglobinopathies
David Dinan1, Monica Epelman1, Carolina V Guimaraes1
1Department of Medical Imaging, Nemours Children's Hospital, Orlando, FL.
Pediatric hemoglobinopathies like sickle cell disease and beta-thalassemia present diverse imaging findings. This review details common radiographic and cross-sectional imaging features, considering hemosiderosis and chelation therapy effects.
Area of Science:
- Medical Imaging
- Genetics
- Pediatrics
Background:
- Hemoglobinopathies are genetic blood disorders with varied clinical and imaging presentations.
- Pediatric imaging is complicated by hemosiderosis and chelation therapy side effects.
- Technological advancements have improved the imaging of these conditions.
Purpose of the Study:
- To review and illustrate common imaging findings in pediatric sickle cell disease and beta-thalassemia.
- To highlight the evolution of imaging techniques for hemoglobinopathies.
- To provide a resource for radiologists and clinicians managing these pediatric patients.
Main Methods:
- Review of radiographic and cross-sectional imaging studies.
- Illustration of characteristic findings in sickle cell disease and beta-thalassemia.
- Discussion of imaging features influenced by hemosiderosis and treatment.
Main Results:
- Detailed description of common bone, spleen, liver, and other organ abnormalities.
- Radiographic examples of characteristic changes such as bone infarcts, dactylitis, and extramedullary hematopoiesis.
- Cross-sectional imaging findings including iron overload and treatment-related changes.
Conclusions:
- Sickle cell disease and beta-thalassemia exhibit distinct yet overlapping imaging patterns in children.
- Accurate interpretation of imaging is crucial for diagnosis and management.
- Understanding imaging evolution aids in optimizing patient care for hemoglobinopathies.
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