Also known as: Sickle Cell Disease (SCD)
Sickle cell disease is an inherited blood disorder where red blood cells become rigid and sickle-shaped, blocking blood flow and causing pain crises, organ damage, and other serious complications.
Sickle cell disease affects approximately 20 million people worldwide, with the highest prevalence in sub-Saharan Africa. It is caused by a single point mutation in the haemoglobin gene.
Sickle-shaped red blood cells are rigid and sticky, blocking small blood vessels and causing tissue ischaemia (vaso-occlusive crises). Chronic haemolysis leads to anaemia, and repeated organ ischaemia causes progressive organ damage.
Hydroxyurea has been the mainstay of treatment for decades. Recent advances include gene therapy (Casgevy) and voxelotor, offering potential cure or significant disease modification.
People with Sickle Cell Disease often experience the following symptoms.
Sudden, severe pain in bones, joints, chest, or abdomen from blocked blood flow. The hallmark of SCD.
Ongoing red cell destruction causing fatigue, pallor, jaundice, and elevated bilirubin.
A medical emergency: new lung infiltrate with fever, cough, chest pain, or hypoxia. Leading cause of death in SCD.
Sudden trapping of blood in the spleen causing rapid anaemia and potentially life-threatening shock, especially in children.
Certain factors may increase your likelihood of developing Sickle Cell Disease.
Common approaches to managing sickle cell disease. Always consult a healthcare provider for personalized treatment.
Increases foetal haemoglobin production, reducing sickling, pain crises, and acute chest syndrome by 50%.
Casgevy (CRISPR-based) and Lyfgenia offer potential cure by modifying the patient's own stem cells.
Regular transfusions for stroke prevention and acute complications. Exchange transfusion for acute chest syndrome.
Stabilises haemoglobin in the oxygenated state, reducing sickling and haemolysis.
Newborn screening (haemoglobin electrophoresis) in most developed countries. Haemoglobin S confirmed by electrophoresis or HPLC. Genetic testing for specific mutations.
Seek emergency care for severe pain crisis unresponsive to home management, fever over 38.5C, chest pain or breathing difficulty, severe headache, or sudden vision changes.
Steps that may help reduce the risk of developing or worsening sickle cell disease.
Genetic counselling for carriers
Newborn screening for early treatment
Penicillin prophylaxis in children
Vaccination against encapsulated organisms
If left untreated or poorly managed, sickle cell disease may lead to:
Gene therapy (Casgevy, Lyfgenia) and bone marrow transplant offer potential cure. Hydroxyurea effectively manages but does not cure.
Yes. Each pregnancy has a 25% chance of SCD, 50% carrier, and 25% unaffected. Genetic counselling is recommended.
No. Sickle cell trait (one copy of the gene) usually causes no symptoms. SCD requires two copies.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.