Sickle Cell Disease (SCD) is a genetic blood disorder in which abnormal hemoglobin S causes red blood cells to lose their normal round shape and become sickle- or C-shaped. These rigid cells block blood flow, leading to anemia, pain crises, organ damage, and other complications.
Causes of Sickle Cell Disease – Why it Happens
1. Genetic basis
SCD is a genetic disorder. It occurs when the HBB gene, responsible for making hemoglobin, has a mutation. This mutation produces hemoglobin S instead of normal hemoglobin A. A child develops sickle cell disease only if they inherit defective genes from both parents. If only one gene is inherited, the person has sickle cell trait, usually without severe symptoms.
2. Sickle-shaped- Red blood cells
Normal red blood cells(RBC) are round in shape and flexible, allowing smooth blood flow. With hemoglobin S, RBCs become rigid and crescent-shaped. These cells break down faster (hemoglobin) and have a much shorter lifespan, 10- 20 days, compared to normal RBCs, about 120 days. Sickle-shaped cells can clump together and block blood flow, preventing oxygen from reaching organs and causing anemia, pain, crises, and organ damage.
Symptoms of Sickle Cell Disease – Common Signs Patients Face
Sickle Cell Disease (SCD) causes a range of physical symptoms due to abnormal, sickle cell, and reduced oxygen flow. Common signs include:
1. Anemia: Fatigue, weakness, and pale skin due to the rapid breakdown of red blood cells. 2. Pain Episodes (Crises) : Sudden, severe pain in bones, chest, abdomen, or joints caused by blocked blood flow.
3. Swelling: Hands and feet may swell, especially in infants and children.
4. Frequent Infections: SCD can weaken the immune system, making patients more susceptible to infections.
5. Delayed Growth: Slow growth or delayed puberty due to reduced oxygen and nutrients reaching organs.
6. Vision Problems: Damage to the eyes from blocked blood vessels can cause vision issues.
7 Jaundice: Yellowing of skin and eyes from the breakdown of red blood cells.
Diagnosis of Sickle Cell Disease: Doctors diagnose sickle cell disease using blood tests such as hemoglobin electrophoresis, CBC, and blood smear, sometimes supplemented with genetic testing. Newborn screening detects sickle hemoglobin early, enabling timely treatment. Early diagnosis is essential to manage symptoms, prevent complications, and improve patient outcomes.
Treatment and Management of Sickle Cell Disease: Sickle Cell Disease is managed through medications, lifestyle care, and in some cases, bone marrow transplantation. Hydroxyurea increases fetal hemoglobin to reduce sickling, while pain relievers and blood transfusions treat crises and prevent complications. Antibiotics and vaccines help avoid infections. Lifestyle measures include staying hydrated, eating a nutritious diet, and avoiding triggers like extreme temperatures and regular medical check-ups. Bone marrow or stem cell transplant offers a potential cure for selected patients, mainly children with compatible donors. Early diagnosis and consistent management improve quality of life and reduce the risk of severe complications.
Prevention and Awareness – Genetic Counseling and Early Testing
Sickle Cell Disease is inherited, so prevention focuses on genetic awareness and early detection. Key measures include:
1. Genetic counseling: Couples planning a family can undergo counselling to understand the risk of passing SCD to children.
2. Carrier Testing: Blood tests identify carriers of the sickle cell trait, even if asymptomatic.
3. Prenatal Diagnosis: Early screening during pregnancy helps detect the disease in the fetus.
4. Newborn Screening: Early diagnosis in infants ensures timely treatment, preventing severe complications.
5. Awareness Programs: Education about inheritance, symptoms, and management encourages informed family planning and healthier outcomes.
A Human Touch – Impact on Daily Life and Importance of Awareness
Living with sickle cell disease is not just a medical challenge but also a daily struggle. Patients often face chronic pain, fatigue, and frequent hospital visits, which disrupts education, jobs, and social life.
Raising awareness is crucial because it helps reduce stigma, encourages early screening, and promotes genetic counselling to prevent future cases. Supportive communities and better healthcare access can empower patients to live longer, healthier and more fulfilling lives despite the challenges of SCD.