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Updated: Oct 5, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
[Care pathway for the sickle cell child]
Laurent Holvoet1, Arouny Keohavong1, Kagny Traore1
1Centre de la drépanocytose, hôpital Robert-Debré, boulevard Serrurier, 75019 Paris, France.
Insights
Sickle cell disease management has advanced, nearly eliminating pediatric deaths. However, significant ongoing morbidity necessitates future efforts to improve patient quality of life and prevent adult chronic conditions.
Area of Science:
- Genetics
- Hematology
- Public Health
Background:
- Sickle cell disease is the primary genetic disorder in France.
- Recent advancements in management have significantly reduced pediatric mortality.
- Despite progress, substantial morbidity persists, impacting quality of life.
Purpose of the Study:
- To highlight progress in sickle cell disease management.
- To identify the persistent challenge of morbidity.
- To outline future directions for improving patient outcomes.
Main Methods:
- Review of management strategies in reference centers.
- Analysis of multidisciplinary expertise impact.
- Assessment of pediatric mortality and adult morbidity trends.
Main Results:
- Pediatric mortality from sickle cell disease has been nearly eradicated.
- Significant morbidity remains a major burden for patients.
- Chronic conditions predominantly affect adult patients.
Conclusions:
- While pediatric outcomes have improved, reducing morbidity is crucial.
- Future efforts should focus on enhancing quality of life for all patients.
- Preventing chronic diseases in adults with sickle cell disease is a key objective.
Abstract:
The management of sickle cell disease, the leading genetic disease in France, has made immense progress in recent years thanks to the creation of reference centres and multidisciplinary expertise. Pediatric mortality has almost disappeared, but the disease is still burdened with significant morbidity. The challenge for the coming years is to reduce this morbidity in order to improve quality of life and prevent chronic diseases, which occur mainly in adults.
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