Causes of Sickle Cell Disease

Sickle cell disease is a severe condition affecting millions of people worldwide. It modifies the shape and function of red blood cells, leading to complications such as anaemia, pain, and organ damage. Understanding the underlying causes is essential for managing sickle cell disease.

This article explores the sickle cell disease causes.

What are the causes of sickle cell disease?

The main causes of sickle cell are genetic factors that affect haemoglobin production. Below are the key causes and contributing factors:

• Genetic mutation

At the core of sickle cell disease is a mutation in the Hemoglobin Subunit Beta (HBB) gene, which is responsible for producing haemoglobin. This protein allows red blood cells to transport oxygen throughout the body. This mutation results in the formation of haemoglobin S, an abnormal type of haemoglobin that makes red blood cells rigid and sickle-shaped. Unlike normal, round red blood cells, these sickled cells can clump together, block blood flow, and cause severe pain and complications.

• Inheritance patterns

Sickle cell disease passes down from parents to their children. The inheritance pattern is as follows:

• A child develops sickle cell disease if they get two copies of the sickle cell gene (one from each parent).
• A child is considered a carrier if they get only one copy of the gene, a condition known as sickle cell trait. While carriers usually do not experience severe symptoms, they can pass the gene to their children.

• Ancestral and geographic links

Sickle cell disease is most prevalent among people from Africa, the Mediterranean, the Middle East, and India. The sickle cell gene initially evolved as a natural defence against malaria. Sickle cell trait carriers have a degree of protection against severe malaria. This explains why the condition is more common in regions where malaria has historically been widespread.

• Environmental and physiological triggers

While sickle cell disease is purely genetic, certain external factors can worsen symptoms and trigger pain crises. These include:

• Dehydration: Reduces blood volume, increasing the likelihood of sickling.
• Extreme temperatures: Exposure to cold or excessive heat can stress the body and cause sickling episodes.
• High altitudes: Lower oxygen levels at high elevations can worsen symptoms.
• Physical or emotional stress: Stressful situations can exacerbate the condition, leading to complications.

Conclusion

Sickle cell disease results from mutations in the haemoglobin-producing gene, with inheritance playing a crucial role in its transmission. While the condition is primarily genetic, environmental factors can influence symptom severity. Early diagnosis, preventive care, and proper disease management improve the quality of life for those affected.

Additionally, health insurance ensures access to critical medical services, reducing the financial burden and enhancing overall well-being.

Disclaimer: The information provided in this blog is for educational and informational purposes only. It is not intended as a substitute for professional advice, diagnosis, or treatment. Please consult your general physician or another certified medical professional for any questions regarding a medical condition. Relying on any information provided in this blog is solely at your own risk, and ICICI Lombard is not responsible for any effects or consequences resulting from the use of the information shared.