Decoding Common Symptoms and Complications of Sickle Cell Disease - Dr Rasmi Palassery

Sickle cell disease (SCD) is an inherited blood disorder that affects the red blood cells. It affects the shape of red blood cells, which carry oxygen to all parts of the body.

Red blood cells are typically spherical and flexible, allowing them to readily pass through blood channels. In sickle cell anaemia, the red blood cells resemble sickles or crescent moons. These sickle cells also become hard and sticky, slowing or preventing blood flow and reducing the haemoglobin content of the blood.

The current approach to treatment is to relieve pain and help prevent complications of the disease. A curative therapy of SCD is an allogeneic HSCT and can be life saving for patients with a severe form of SCE.

There are also newer techniques like gene therapy that are being tested with successful cures. India accounts for 14.5 percent of the global SCD newborns, roughly over 42,000 a year, second to sub-Saharan Africa. It affects those with roots in Africa, Spanish-speaking regions in the Western Hemisphere, Saudi Arabia, India, and Mediterranean countries.

Symptoms of SCD

Symptoms of sickle cell anaemia often show about 6 months ol. They differ from person to person and might alter over time. The hallmark symptom of SCD is the sickling of red blood cells, which can cause various complications.

1. Anaemia: Sickle cells disintegrate quickly and die leading to chronic anaemia due to the destruction of red blood cells. Symptoms of anaemia include fatigue, weakness, and paleness.
2. Pain: Episodes of sudden, severe pain occur when sickle-shaped red blood cells block blood flow to organs and tissues. This is one of the most characteristic features of SCD and can affect bones, joints, chest, and abdomen.
3. Swelling of hands and legs: Red blood cells with a sickle shape obstruct blood flow to the hands and feet, causing swelling.
4. Frequent Infections: The spleen plays a crucial role in infection prevention. The spleen will sustain damage from sickle cells, increasing the likelihood of infections. Vaccinations and antibiotics are frequently administered to infants and young children with sickle cell anaemia to prevent potentially fatal illnesses like pneumonia.
5. Delayed Growth: Children with SCD may experience delayed growth and puberty due to chronic anaemia and the overall impact of the disease on their health.
6. Acute Chest Syndrome: A serious complication characterized by chest pain, fever, cough, and difficulty breathing. It can be triggered by infection or blocked blood flow to the lungs.
7. Stroke: Sickle cell anaemia increases the risk of stroke, particularly in children. This is due to the blockage of blood vessels in the brain by sickled cells.

Complications of SCD

1. Organ Damage: Chronic blockage of blood flow and iron accumulation can lead to damage and dysfunction of organs, including the spleen, kidneys, liver, and eyes.
2. Priapism: Painful and prolonged erection of the penis, caused by blocked blood flow in the area.
3. Gallstones: SCD increases the risk of gallstones due to the breakdown of red blood cells and elevated bilirubin levels.
4. Pulmonary Hypertension: Chronic sickling of red blood cells can damage the blood vessels in the lungs, leading to high blood pressure in the lungs (pulmonary hypertension).
5. Leg Ulcers: Chronic wounds on the lower legs, often difficult to heal and prone to infection.
6. Stroke: Sickling can cause blockage of blood vessels in the brain resulting in stroke.

Sickle cell disease is a complex genetic disorder that affects multiple organ systems and can lead to significant morbidity and mortality if not properly managed.

While advances in medical care, including hydroxyurea therapy, blood transfusions, and bone marrow transplants, have improved outcomes for individuals with SCD, there is still a need for ongoing research and comprehensive healthcare strategies to address the diverse manifestations of this condition.

Early diagnosis, regular medical follow-up, and supportive care are essential in improving the quality of life and reducing complications for individuals living with sickle cell disease. All patients with severe symptoms of sickle cell anaemia should be evaluated as possible candidates for undergoing allo-HSCT.