​Sickle Cell Disease: Causes, Symptoms, Diagnosis & Treatment

​Sickle Cell Disease: Causes, Symptoms, Diagnosis & Treatment

August 26, 2025

Blood is one of the primary and most important liquids in the human body. It acts as a carrier of oxygen and minerals to the tissues and organs of the body. It plays a significant role in ensuring that the organs carry out their functions appropriately. The red blood cells present in the blood not only aid in oxygen transport but also help sustain overall energy. A decrease in these cells can disrupt the body’s oxygen supply, affecting overall functioning and growth.

​One of the main reasons this occurs is because of a condition called anaemia. While there are several types of anaemia, the most severe one is sickle cell anaemia, which is a part of a group of disorders known as sickle cell disease (SCD). In the blog below, we will discuss the causes, symptoms, and treatment options available for sickle cell disease to help you understand the disease and learn ways to manage it better.

​What is Sickle Cell Disease (SCD)?

SCD is a group of disorders that mainly affects one’s haemoglobin or red blood cells. Our red blood cells are normally round in shape; however, in SCD, the haemoglobin present in the body is slightly different, which causes these cells to take a C shape, also known as the crescent moon shape. This shape causes the red blood cells to get entangled with the small blood vessels, making it difficult for them to flow through the body freely. This condition not only leads to a blockage in the blood flow but also restricts oxygen transport, causing severe pain and an increased risk of organ failure.

​Symptoms of Sickle Cell Disease

No two people experience the same symptoms of sickle cell disease. Symptoms often range from mild to critical and vary across cases. However, some of the commonly observed symptoms include:

  • Anaemia: A condition in which the sickled blood cells die at a rapid rate, causing a shortage of red blood cells in the body. In this condition, patients experience immense weakness and fatigue as the body fails to receive sufficient oxygen.
  • Pain: Individuals may experience random episodes of pain in various parts of the body. This occurs when the sickled cells prevent the blood flow from reaching certain organs in the body.
  • Bodily Swelling: Also commonly known as dactylitis, a swelling that occurs in the hands and the feet due to a lack of blood flow or oxygen supply.
  • Delays in Growth: As the red blood cells fail to deliver sufficient oxygen and nutrients throughout the body, it automatically impacts the individual’s growth and development. People may even experience a delay in puberty due to anaemia.
  • Vision Issues: If the sickle cells block the blood flow that reaches the eyes, it could lead to severe damage and potential loss of sight.

​Causes of Sickle Cell Disease

While there aren’t many causes of sickle cell disease, the way in which it impacts individuals can be described in a number of ways. The root cause of sickle cell disease is a genetic change in one of our genes, known as the HBB gene. This gene aids in the production of haemoglobin in the body. However, the mutation causes the HBB gene to produce an abnormal type of haemoglobin, also known as haemoglobin S, which makes the red blood cells stiff. It also impacts their shape, making them appear more crescent-like as compared to their normal circular shape. This impacts their ability to transport nutrients and oxygen throughout the body.

​As mentioned before, it is a genetic condition, which means an individual can only have the disorder if the gene has been passed down to them from both parents. If the person inherits the sickle cell gene from just one parent, then he/she becomes a carrier of the gene but does not experience any symptoms. Nevertheless, such individuals are fully capable of passing down the gene to their offspring.

How is Sickle Cell Disease Diagnosed?

Doctors often recommend several tests to diagnose the presence of the sickle cell gene in the body.

  • Prenatal Screening: The sickle cell gene can be diagnosed even before the baby is born. Such testing is often recommended in cases where the mother has sickle cell anaemia or sickle cell disease.  
  • Newborn Screening: In several countries, newborns are tested for SCD to ensure early interventions.

Other common tests include:

  • Genetic Testing
  • Haemoglobin Electrophoresis
  • Complete Blood Count (CBC)
  • Blood Smear

Sickle Cell Disease Treatment

While there isn’t any cure to treat sickle cell disease, the current treatment measures available focus on addressing and managing its symptoms and preventing further complications. Listed below are some of the common sickle cell disease treatment options:

  1. Medications
  • Hydroxyurea: A medication that helps increase the production of foetal haemoglobin, which limits the red blood cells from sickling.
  • L-glutamine: Another medication that helps reduce the damage caused to the red blood cells due to SCD.
  • Crizanlizumab: This medication is given intravenously. It helps manage pain crises and reduce the stickiness of the red blood cells.
  • Pain relievers: In cases where the pain is intense, doctors might recommend over-the-counter pain relievers to help relieve the pain.
  • Antibiotics: Antibiotics may also be given to prevent infections and further complications.
  1. Blood Transfusions

Blood transfusions provide the body with healthy and new red blood cells that help reduce the risk of having severe complications due to SCD.

  1. Bone Marrow Transplant (BMT)

Research shows that a BMT can potentially cure sickle cell disease. It is an invasive surgical procedure in which the patient’s affected bone marrow is replaced by healthy bone marrow from a suitable donor.

  1. Supportive Care

Adapting a healthy lifestyle consisting of regular exercise, healthy eating habits, consuming adequate water, etc., is crucial in managing SCD. Regular checkups are also crucial to monitor the condition and ensure appropriate treatment.

​Conclusion

People often confuse sickle cell disease and sickle cell anaemia. While both affect the body’s haemoglobin and red blood cells, understanding the difference between the two helps manage the condition better. As you have read, sickle cell disease is a group of disorders that is inherited genetically and has no set cure. However, with proper medications and supportive care, the condition can be managed. At Zenplus Private Limited, we are committed to raising awareness and assisting individuals with SCD through quality care and treatment. We believe that everyone has the right to good health and well-being, and the first step towards it begins with awareness. Get informed and take charge of your health today!