Sickle Cell Anaemia

Sickle cell anaemia is a genetic disorder that affects the production of haemoglobin, a protein in red blood cells that carries oxygen to different parts of the body. It is also known as sickle cell disease (SCD) and is characterized by the presence of abnormal haemoglobin, known as haemoglobin S (HbS), which causes red blood cells to become misshapen and break down.

What is Sickle Cell Anaemia?

Sickle cell anaemia is a recessive genetic disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The mutated gene codes for the production of HbS, which replaces normal haemoglobin in red blood cells. This leads to the formation of abnormal red blood cells that are shaped like sickles or crescent moons, rather than the normal disk shape.

Symptoms of Sickle Cell Anaemia

The symptoms of sickle cell anaemia can vary from person to person and may include:

• Pain episodes: These are the most common symptom of sickle cell anaemia and occur when abnormal red blood cells get stuck in small blood vessels, causing pain and inflammation.
• Anaemia: This is a condition where the body does not have enough red blood cells or haemoglobin to carry oxygen to different parts of the body, leading to fatigue, weakness, and shortness of breath.
• Infections: People with sickle cell anaemia are more prone to infections, particularly those caused by encapsulated bacteria such as Streptococcus pneumoniae.
• Delayed growth and development: Children with sickle cell anaemia may experience delayed growth and development due to the lack of oxygen and nutrients being delivered to different parts of the body.
• Organ damage: Repeated episodes of sickling can cause damage to organs such as the kidneys, liver, and heart.

Treatments for Sickle Cell Anaemia

The goal of treatment for sickle cell anaemia is to manage symptoms, prevent complications, and improve quality of life. Treatments may include:

• Pain management: This can involve the use of pain medications such as acetaminophen or ibuprofen, as well as other treatments such as heat therapy or physical therapy.
• Hydration: Drinking plenty of water is essential to help prevent dehydration and reduce the risk of sickling episodes.
• Oxygen therapy: This may be necessary in cases where a person with sickle cell anaemia is experiencing severe anaemia or respiratory problems.
• Blood transfusions: These can help increase the number of healthy red blood cells in the body and reduce the risk of complications such as organ damage.
• Medications: There are several medications that can help manage symptoms of sickle cell anaemia, including hydroxyurea, which can help reduce the frequency of pain episodes and improve haemoglobin levels.
• Bone marrow transplantation: This is a procedure where the bone marrow is replaced with healthy bone marrow from a donor. It is usually reserved for severe cases of sickle cell anaemia or those who have not responded to other treatments.
• Gene therapy: This is a relatively new treatment that involves using genes to help correct the genetic defect that causes sickle cell anaemia. It is still in the experimental stages and is not yet widely available.

Complications of Sickle Cell Anaemia

Sickle cell anaemia can lead to several complications, including:

• Stroke: This is a serious complication that can occur when abnormal red blood cells get stuck in the blood vessels of the brain.
• Kidney damage: Repeated episodes of sickling can cause damage to the kidneys, leading to kidney failure.
• Heart problems: Sickle cell anaemia can increase the risk of heart problems such as high blood pressure and heart failure.
• Pulmonary hypertension: This is a condition where the blood vessels in the lungs become narrowed, making it difficult for blood to flow through them.
• Blindness: Sickle cell anaemia can cause damage to the blood vessels in the eyes, leading to blindness.

Prevention of Sickle Cell Anaemia

Sickle cell anaemia is a genetic disorder and cannot be prevented. However, there are several steps that can be taken to reduce the risk of complications:

• Genetic testing: This can help identify individuals who carry the mutated gene and provide them with information about their risk of developing sickle cell anaemia.
• Prenatal testing: This can help identify fetuses that have inherited the mutated gene, allowing parents to make informed decisions about their pregnancy.
• Screening for newborns: This can help identify babies who have sickle cell anaemia, allowing for early treatment and management of symptoms.

Frequently Asked Questions (FAQs)

What is sickle cell anaemia?
A genetic disorder affecting haemoglobin production.

What causes sickle cell anaemia?
Mutation in HBB gene that codes for haemoglobin.

How common is sickle cell anaemia?
Most common in people of African, Caribbean, and Middle Eastern descent.

What are the symptoms of sickle cell anaemia?
Pain episodes, fatigue, jaundice, and shortness of breath.

Can sickle cell anaemia be cured?
No cure, but treatments can manage symptoms.

How is sickle cell anaemia diagnosed?
Blood tests and genetic testing.

Is sickle cell anaemia inherited?
Yes, autosomal recessive inheritance pattern.

What are the complications of sickle cell anaemia?
Organ damage, infections, and stroke.

Can people with sickle cell anaemia lead normal lives?
With proper management, many lead active lives.

Is there a difference between sickle cell anaemia and sickle cell trait?
Sickle cell trait is a carrier state, not the full disease.