Sickle Cell Disease
Understanding Sickle Cell Disease
Sickle cell disease (SCD) is an inherited hemoglobin-related blood disorder that affects the shape and function of red blood cells which carry oxygen to all parts of the body. Instead of being round and flexible, the red blood cells in patients with SCD can become rigid, sticky and shaped like a crescent or sickle. These abnormally shaped cells can slow or block blood flow and cause a variety of symptoms and complications.
Here are some common symptoms of sickle cell disease:
1. Pain crises
One of the hallmark symptoms of SCD is sudden and severe pain. These painful episodes develop when sickle-shaped red blood cells block blood flow. It can occur anywhere in the body but often affects the chest, abdomen, and joints. The pain can last for a few hours to several days and may require hospitalization.
2. Anemia
Patients with SCD often have a lower number of red blood cells, leading to anemia. Symptoms of anemia include fatigue, weakness, and shortness of breath.
3. Swelling of hands and feet
Also known as dactylitis, swelling in the hands and feet can be an early sign of SCD in infants and young children. This swelling is caused by sickle cells blocking blood flow to the extremities.
4. Frequent Infections
SCD can damage the spleen, an organ that helps fight infections. As a result, patients with SCD are more prone to infections. Vaccinations and antibiotics are often used to help prevent infections.
5. Stroke
In some cases, sickle cells can block blood flow to the brain, leading to a stroke. Symptoms of a stroke include sudden weakness or numbness, difficulty speaking, and loss of consciousness. Stroke is a serious complication of SCD and requires immediate medical attention.
6. Organ Damage
Over time, due to the chronic lack of oxygen and repeated blockages of blood flow SCD can cause damage to organs such as the liver, kidneys, lungs, and heart.
Diagnosing Sickle Cell Disease
Sickle cell disease (SCD) is diagnosed through a simple blood test called hemoglobin electrophoresis. This test checks for the presence of abnormal hemoglobin, that underlies sickle cell disease. Newborns are routinely screened for SCD in many countries, allowing for early diagnosis and treatment, but older children and adults can get it too. Early detection is crucial for managing symptoms and preventing complications.
Managing Sickle Cell Disease
Sickle cell disease is a serious and lifelong health condition. While there is currently no universal cure for SCD, treatments are available to manage symptoms and prevent complications. These include medications, blood transfusions, and, in some cases, bone marrow transplants or more recently gene therapy. People with SCD should work closely with their healthcare providers to develop a comprehensive care plan.
Living with Sickle Cell Disease
Living with sickle cell disease (SCD) requires careful daily management. Here are some tips to help maintain your health:
Stay Hydrated: Drink plenty of water to keep your blood flowing smoothly.
Avoid Extreme Temperatures: Dress appropriately for the weather to prevent sickle cell crises.
Be careful at high altitudes: the lack of oxygen at high altitudes may trigger a crisis (travelling by plane should not be a problem because planes are pressurized to maintain a steady oxygen level).
Exercise Regularly: Engage in moderate physical activity but avoid overexertion.
Prevent Infections: Keep up with vaccinations and practice good hygiene to reduce infection risks.
Relax: Stress can trigger sickle cell crisis. Use relaxation techniques like deep breathing, meditation, or hobbies to manage stress.
Regular Medical Check-ups: Visit your healthcare provider regularly to monitor your condition and catch any complications early.
Resources
NHS. Living with Sickle cell disease https://www.nhs.uk/conditions/sickle-cell-disease/living-with/
Filière de santé maladies constitutionnelles rares du globule rouge et de l’érythropoïèse - Network for rare diseases of red blood cells and erythropoiesis https://filiere-mcgre.fr/les-pathologies/drepanocytose-maladies-rares-anemie-sang-hemato-drepanocytose-invisible-handicap-crise-vaso-occlusive-don-du-sang-transfusion/
Sickle cell society https://www.sicklecellsociety.org/
SOS Globi: the federation of Sickle cell and Thalassemic patients https://sosglobi.fr/en/
References
Kato G. J. et al. Sickle cell disease. Nature reviews 2018; 18010.
Russell E Ware et al. Sickle cell disease. Lancet 2017; 390: 311–23.