Sickle Cell Anaemia- Symptoms and It's Treatments

Sickle cell anaemia is a genetic blood disorder that affects the shape of red blood cells. Normally, red blood cells are round and flexible, allowing them to easily travel through blood vessels and deliver oxygen to the body's tissues. However, in individuals with sickle cell anaemia, red blood cells become crescent or "sickle" shaped and can get stuck in the small blood vessels, blocking the flow of blood and oxygen to the body's tissues.

Sickle cell anaemia is caused by a mutation in the gene that makes haemoglobin, the protein in red blood cells that carries oxygen. The mutated haemoglobin, called haemoglobin S, can cause red blood cells to become stiff and sticky, leading to blockages in the blood vessels. These blockages can cause a range of symptoms, including pain, infections, and organ damage.

Sickle cell anaemia is an inherited condition, meaning it is passed down from parents to their children. Individuals with sickle cell anaemia inherit two copies of the mutated gene, one from each parent. Individuals who inherit only one copy of the mutated gene, called carriers, do not have sickle cell anaemia themselves, but they can pass the condition to their children.

Symptoms of sickle cell anaemia can vary in severity and frequency, but some common symptoms include:

  • Anaemia: Fatigue, weakness, and pallor due to a lack of red blood cells.
  • Pain: Severe and sudden pain in the bones, joints, and other parts of the body, caused by blockages in the blood vessels.
  • Infections: Increased susceptibility to infections, including pneumonia and meningitis, due to a weakened immune system.
  • Stroke: Risk of stroke, especially in children, due to blockages in the blood vessels that supply blood to the brain.
  • Organ damage: Increased risk of damage to the spleen, liver, and other organs, due to blockages in the blood vessels.
  • Jaundice: Yellowing of the skin and eyes due to a build-up of bilirubin, a waste product produced due to breaking of rigid sickle red blood cells.

The most common treatment for sickle cell anaemia is aimed at relieving symptoms, preventing and treating complications, and improving quality of life. With proper care and management, most people with the condition can live a full and productive life. The following are some of the treatments for sickle cell anaemia:

  • Pain management: Pain is a common symptom of sickle cell anaemia, and managing it is a key part of treatment. Pain-relieving medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs) and opioid painkillers, can be used to manage pain. In addition, physical therapy, hydrotherapy, and other forms of therapy may be used to help manage pain and improve mobility.
  • Blood transfusions: Blood transfusions can be used to increase the number of healthy red blood cells in the body and reduce the risk of complications associated with sickle cell anaemia, such as stroke and organ damage. Blood transfusions are often used before and after surgeries or during episodes of severe pain.
  • Bone marrow transplant: A bone marrow transplant, also known as a stem cell transplant, is a procedure that replaces diseased bone marrow with healthy bone marrow. Bone marrow transplants can cure sickle cell anaemia, but they are a risky procedure and are recommended for children & adolescents with severe forms of the condition.
  • Antibiotics: Antibiotics can be used to prevent and treat infections, which are a common complication of sickle cell anaemia. Children with sickle cell anaemia are often given antibiotics to prevent infections, and people with the condition are encouraged to seek medical attention promptly if they develop symptoms of an infection.Vaccinations for infectious disease are strongly recommended.
  • Hydroxyurea: Hydroxyurea is a medication that can increase the production of foetal haemoglobin, which is a type of haemoglobin that can protect against sickling of red blood cells. Hydroxyurea has been shown to reduce the frequency of painful episodes and improve quality of life for some people with sickle cell anaemia.
  • Gene therapy: Gene therapy is a promising area of research for sickle cell anaemia, and there are on-going clinical trials exploring the use of gene therapy to cure the condition. Gene therapy works by introducing healthy copies of the sickle cell gene into the body, and it holds the potential to cure sickle cell anaemia in the future.

Sickle cell anaemia is a serious and potentially life-threatening blood disorder that affects the shape of red blood cells. Treatment and management can help to relieve symptoms and prevent complications. It is also important for individuals with sickle cell anaemia to maintain a healthy lifestyle, including a balanced diet and regular physical activity, to help manage symptoms and prevent complications. With the right care and support, individuals with sickle cell anaemia can lead healthy and fulfilling lives. Bone Marrow Transplant is curative option for patients of sickle cell disease.

Dr. Satyaranjan Das
Department of Hemato-Oncology & Bone Marrow Transplant
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