Understanding Sickle Cell Disease

As September marks Sickle Cell Awareness Month, it’s an important time to deepen understanding of sickle cell disease (SCD). This article aims to shed light on the causes, signs and symptoms, diagnosis, and treatment of SCD, helping to raise awareness and support for those affected.

What is Sickle Cell Disease?

Sickle cell disease is a genetic blood disorder that affects the haemoglobin in red blood cells. Haemoglobin is the protein responsible for carrying oxygen throughout the body. In individuals with SCD, the haemoglobin is abnormal, leading red blood cells to become rigid and shaped like a crescent or sickle, instead of the typical disc shape. These sickle-shaped cells can block blood flow in small blood vessels, causing pain and other serious complications.

Causes

SCD is caused by a mutation in the HBB gene, which provides instructions for making hemoglobin. This genetic mutation leads to the production of abnormal haemoglobin known as haemoglobin S. SCD is inherited in an autosomal recessive pattern, meaning a child must receive two copies of the mutated gene—one from each parent—to develop the disease. If a child inherits only one copy of the mutated gene, they become a carrier of the disease (sickle cell trait) but typically do not show symptoms.

Signs and Symptoms

The symptoms of sickle cell disease can vary widely among individuals but often include:

– Pain Crises: Episodes of severe pain, known as sickle cell crises, occur when sickle-shaped cells block blood flow in the body.
Anaemia: The destruction of sickle cells can lead to a shortage of red blood cells, causing fatigue, weakness, and pallor.
– Swelling: Painful swelling in the hands and feet, known as dactylitis or hand-foot syndrome, is common in infants and young children with SCD.
– Frequent Infections: Sickle cell disease can damage the spleen, making individuals more susceptible to infections.
– Delayed Growth: Children with SCD may experience delayed growth and development due to anaemia and other complications.
– Vision Problems: Blocked blood flow to the eyes can cause vision problems and even blindness.

Diagnosis

Sickle cell disease is often diagnosed through newborn screening, which is routinely performed in many countries, including the United States. The screening tests for the presence of haemoglobin S in the blood. For those who are not diagnosed at birth, further diagnostic tests, such as haemoglobin electrophoresis, can confirm the presence of sickle cell disease.

Treatment

While there is currently no universal cure for SCD, various treatments can help manage symptoms and improve quality of life:

– Pain Management: Pain relief is a key component of SCD treatment, often involving medications such as acetaminophen, ibuprofen, or opioids during severe pain crises.
– Hydroxyurea: This medication can reduce the frequency of pain crises and the need for blood transfusions by increasing the production of foetal haemoglobin, which does not sickle.
– Blood Transfusions: Regular blood transfusions can help prevent complications such as stroke and reduce anaemia by providing healthy red blood cells.
-Bone Marrow Transplant: For some individuals, a bone marrow or stem cell transplant may offer a potential cure, though it is not suitable for everyone and involves significant risks.
– Preventive Care: Regular check-ups with healthcare providers, vaccinations, and antibiotics can help manage and prevent complications associated with SCD.

Living with Sickle Cell Disease

Living with sickle cell disease requires ongoing medical care and support. Patients often work with a team of healthcare professionals, including haematologists, pain specialists, and primary care physicians, to manage their condition. Support from family, friends, and patient organisations also plays a crucial role in coping with the challenges of SCD.

Raising Awareness

Sickle Cell Awareness Month in September provides an opportunity to increase understanding and support for individuals living with SCD. Education about the disease, its impact, and the importance of early diagnosis and treatment can lead to better outcomes and improved quality of life for those affected.