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Sickle Cell Disease (SCD): Gene Mutations, Symptoms & Complications

By Dr. Krutika Goel in Paediatric (Ped) Oncology

Jun 17 , 2024 | 1 min read

Sickle Cell disease (SCD) is a genetic blood condition characterised by abnormal haemoglobin. Haemoglobin is a protein in red blood cells responsible for carrying oxygen all over the body. This inherited condition affects the shape and function of red blood cells and causes them to become crescent-shaped and stiff, resembling a sickle.

Genetic Basis

SCD is caused by gene mutations that produce haemoglobin, specifically the beta-globin gene. Individuals inherit one abnormal copy of the gene from each parent, resulting in the production of abnormal haemoglobin known as haemoglobin S (HbS). When oxygen levels are low, such as during physical exertion or stress, HbS molecules can form long, rigid chains, causing red blood cells to become stiff and sticky, leading to blockages in blood vessels.

Common Symptoms

The hallmark symptom of SCD is a pain crisis, also known as a vaso-occlusive crisis. It occurs when these sickle-shaped red blood cells block the blood flow to tissues and organs. These painful episodes can affect other body parts, including the bones, joints, abdomen, and chest.

Other common symptoms of SCD include:

Fatigue.
Shortness of breath.
Jaundice (yellowing of the eyes and skin).
Delayed growth and development in children.

Potential Complications

SCD can cause a range of complications affecting various organs and systems in the body.

Chronic anaemia, resulting from the rapid breakdown of sickle cells, can cause fatigue and weakness.
Organ damage may occur due to decreased blood flow, leading to conditions such as acute chest syndrome (a life-threatening complication affecting the lungs), stroke, and kidney damage.
Individuals with SCD are also at increased risk of infections, as their spleen may not function properly, making them more susceptible to bacterial infections.

Sickle cell disease is a challenging condition requiring ongoing management and support. By understanding its genetic basis, recognising common symptoms such as pain crises and anaemia, and being aware of potential complications affecting various organs, individuals with SCD and their caregivers can better navigate the challenges associated with the disease. Early intervention, comprehensive care, and a supportive healthcare team are essential for optimising outcomes and improving the quality of life for individuals with sickle cell disease.