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Management of patients with sickle cell disease
1Division of Hematology/Oncology, Baystate Medical Center, Springfield, Massachusetts.
Abstract:
The ever-increasing body of information regarding the molecular pathogenesis of sickle cell disease has raised expectations that a specific and effective therapy could be devised to inhibit polymerization of hemoglobin S. Despite an intense international research effort, this goal has not yet been realized. Supportive care continues to be the mainstay in the management of patients with sickle cell anemia. Empiric measures were used in early attempts to treat sickle cell anemia. Herrick reported gratifying improvement after "rest, nourishing food, the administration of iodide, arsenic, thymol and the application of boric ointment to leg ulcers." Many of these suggestions are similar to those of today. Several factors have significantly improved the prognosis of patients with this disease. Improved medical care, genetic counseling, and universal neonatal screening have directly resulted in improved outcome. Molecular biologic techniques have allowed us to approach this disease in a pathophysiologic way. Now we can envision antenatal diagnosis with the use of molecular probes and treatment by gene amplification. Still, however, the most important and challenging link in the chain between the biology of the disease and the clinical sequelae is an astute and interested physician who must remain objective at all times.
Insights
Despite research into sickle cell disease (SCD) molecular pathogenesis, a cure remains elusive. Current management focuses on supportive care, while advances in diagnostics and potential gene therapies offer future hope.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Sickle cell disease (SCD) is a genetic blood disorder characterized by hemoglobin S polymerization.
- Despite extensive research into molecular pathogenesis, a specific therapy to inhibit hemoglobin S polymerization has not been achieved.
- Supportive care remains the primary management strategy for SCD patients.
Purpose of the Study:
- To review the current understanding of sickle cell disease molecular pathogenesis.
- To discuss the historical and current therapeutic approaches for sickle cell disease.
- To highlight advancements in diagnostics and potential future treatments for sickle cell disease.
Main Methods:
- Review of existing literature on sickle cell disease molecular pathogenesis.
- Analysis of historical and contemporary treatment strategies.
- Discussion of emerging molecular biologic techniques and their potential applications.
Main Results:
- No specific therapy to inhibit hemoglobin S polymerization has been successfully developed.
- Significant improvements in patient prognosis are attributed to enhanced medical care, genetic counseling, and neonatal screening.
- Molecular biology offers potential for antenatal diagnosis and gene therapy.
Conclusions:
- Effective targeted therapies for sickle cell disease are still under development.
- Improved outcomes are linked to comprehensive care and early detection.
- The physician's role in objective patient management remains critical.