Sickle cell disease - PubMed
4 hours ago
- #genetic disorder
- #global health
- #haematology
- Sickle cell disease is a genetic red blood cell disorder affecting millions globally.
- Pathophysiology involves sickle haemoglobin polymerisation, vaso-occlusion, haemolysis, and inflammation.
- Acute manifestations include vaso-occlusive crises, acute chest syndrome, stroke, and infections.
- Chronic complications affect virtually all organ systems.
- Recent advances include hydroxyurea implementation, refined transfusion therapy, improved stem cell transplantation, and gene therapies.
- New drugs are being evaluated in clinical trials globally.
- Successful implementation strategies in low-income and middle-income countries involve point-of-care diagnostics and integrated care models.
- Controversies include managing sickle haemoglobin-C and haemoglobin S/β+ variants, cerebrovascular complication prevention, hydroxyurea use in pregnancy, and transition from paediatric to adult care.