DISEASE SCANNER
Global Incurable Diseases Tracker
Sickle Cell Disease
An autosomal recessive hemoglobinopathy caused by a point mutation in the HBB gene (Glu6Val). Red blood cells become rigid and sickle-shaped, causing vaso-occlusion, hemolysis, and multi-organ damage. Most common inherited blood disorder in the US.
20.0M
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Improving dramatically. Median survival now 45-55 years. Gene therapy offers potential cure. Chronic organ damage still occurs. Stroke risk 11% by age 20 without screening. Quality of life improving.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Two CRISPR gene therapies approved (Casgevy/Exa-cel and Lyfgenia/lovo-cel). Crizanlizumab, voxelotor, and L-glutamine approved. Allogeneic stem cell transplant curative for some. Newborn screening universal in US.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.