Sickle cell disease in children: understanding, preventing, and managing the condition

1- What is sickle cell disease?

Sickle cell disease, also known as sickle cell anemia, is a genetic disorder that affects hemoglobin the protein in red blood cells responsible for carrying oxygen throughout the body. In affected individuals, red blood cells take on an abnormal "sickle" shape, making them rigid and sticky. These deformed cells tend to block blood vessels, causing pain, complications, and premature cell destruction.

2- Causes of sickle cell disease

Sickle cell disease is inherited from both parents (SS). For a child to develop the condition, they must inherit a defective gene from each parent (AS + AS, AS + SS, or SS + SS). If only one defective gene is inherited, the child will be a healthy carrier (AS) without symptoms, but they may pass the disease to their children.

3- Symptoms of sickle cell disease

The severity of sickle cell disease varies, but common symptoms in children include:

• Pain crises (Vaso-occlusive crises): Sickle-shaped cells can block blood flow in small vessels, causing sudden and severe pain in the bones, chest, abdomen, or joints. These crises can last from hours to several days.

• Chronic anemia: The abnormal red blood cells are destroyed faster than normal ones, leading to persistent anemia. Symptoms include fatigue, paleness, shortness of breath, and delayed growth.

• Frequent infections: Children with sickle cell disease are more prone to infections due to reduced spleen function, which is crucial for immune defense.

• Swollen hands and feet (Dactylitis): Blockages in blood flow can cause painful swelling in the hands and feet.

• Jaundice (Icterus): Rapid red blood cell destruction leads to an excess of bilirubin in the blood, causing yellowing of the eyes and skin.

4- Complications associated with sickle cell disease

Beyond common symptoms, sickle cell disease can cause serious complications such as:

• Stroke: Children with sickle cell disease have an increased risk of stroke due to blockages in brain vessels.

• Acute chest syndrome: A potentially life-threatening complication characterized by chest pain, fever, and breathing difficulties, often triggered by an infection or a vaso-occlusive crisis.

• Skin ulcers: Blood vessel blockages can result in open sores, especially on the legs.

• Osteonecrosis: Gradual destruction of certain bones due to lack of oxygen and nutrients.

• Severe anemia: A sudden drop in hemoglobin levels, often caused by infections, may require blood transfusions.

5- Diagnosing sickle cell disease

The disease can be diagnosed through:

• Hemoglobin electrophoresis, typically after six months of age.

• Isoelectric focusing:

  • Prenatally through amniocentesis (sampling of amniotic fluid).

  • Postnatally through blood tests.

Early detection is key to providing appropriate care and improving the child’s quality of life.

6- Available treatments

While there is no universal cure for sickle cell disease, several approaches can help manage symptoms and prevent complications:

• Pain management: Analgesics (e.g., paracetamol, ibuprofen) and stronger medications (opioids) are used to relieve pain during crises. Rehydration and local heat therapy may also help.

• Blood transfusions: These may be required in severe anemia or complications such as stroke to increase the number of healthy red blood cells.

• Hydroxyurea: This medication is used to reduce the frequency of pain crises and the need for transfusions.

• Bone marrow transplant: This is the only potential cure but requires a compatible donor and carries significant risks.

• Infection prevention: Vaccination and preventive antibiotics help reduce the risk of serious infections.

7- Tips for parents

To help children with sickle cell disease live healthier lives and avoid complications:

• Maintain good hydration: Encourage regular water intake to prevent pain crises.

• Daily folic acid supplementation: This helps replenish blood stores and reduce anemia symptoms.

• Ensure proper hygiene and a healthy environment.

• Stay up to date with vaccinations, especially against pneumococcus and meningitis.

• Monitor for complications: Seek medical attention if your child develops fever, intense pain, breathing difficulties, or unusual swelling.

• Promote a balanced and nutrient-rich diet: Replace snacks with healthy meals to address nutritional deficiencies related to the disease.

8- Sickle cell disease and school

Collaboration with teachers and school staff is essential to accommodate your child’s specific needs, such as:

• Frequent water breaks to stay hydrated.

• Adapted physical activities to prevent exhaustion.

• Managing absences during crises.

• Choosing schools with clean environments to reduce infection risks.

9- When to see a doctor?

If your child experiences severe pain, difficulty breathing, high fever, or neurological symptoms (e.g., confusion or paralysis), seek immediate medical care. The Centre Pédiatrique de Bonapriso is here to support you and provide quality care.

Conclusion

Sickle cell disease is a complex condition, but with proper care, it is possible to improve the child’s quality of life. Regular medical monitoring and early symptom management are essential to minimize complications.

For more information or to book an appointment, contact the Centre Pédiatrique de Bonapriso at 695502537.

We are here to help you care for your child’s health.