SICKLE CELL ANEMIA

PRERNA FOR IAS

SICKLE CELL ANEMIA

1. Inherited Disorder (Genetic)

Sickle Cell Anemia is an inherited genetic blood disorder caused by a mutation in the HBB gene, which produces abnormal haemoglobin known as Haemoglobin S (HbS). It follows an autosomal recessive pattern of inheritance, meaning a child must inherit the defective gene from both parents to develop the disease. If only one mutated gene is inherited, the person is called a carrier (Sickle Cell Trait) and usually has no major symptoms. The disease is more common among people of African, Mediterranean, Middle Eastern, and Indian ancestry, especially in tribal populations of India.

2. Affects Red Blood Cells (RBCs)

Sickle Cell Anemia primarily affects red blood cells (RBCs), which carry oxygen throughout the body using haemoglobin. In healthy individuals, RBCs are round, soft, and flexible, allowing them to move easily through blood vessels. In this disease, abnormal haemoglobin causes RBCs to become sickle-shaped (crescent-shaped) under low oxygen conditions. These abnormal cells are rigid, sticky, and fragile, making it difficult for them to pass through small blood vessels. As a result, oxygen delivery to tissues is reduced, leading to pain, organ damage, and various health complications over time.

3. No Cure

Currently, there is no universal cure for Sickle Cell Anemia, although treatments can effectively manage symptoms and improve quality of life. Medicines such as hydroxyurea, pain relievers, antibiotics, blood transfusions, and supportive care help reduce complications. In some cases, bone marrow or stem cell transplantation may offer a potential cure, but it is suitable only for selected patients. Early diagnosis, regular medical follow-up, vaccination, proper nutrition, and infection prevention significantly improve survival and overall health. Ongoing research, including gene therapy, offers hope for safer and more effective treatments in the future.

4. Normal Red Blood Cells

Normal red blood cells are round, biconcave, flexible, and elastic, allowing them to move smoothly through even the smallest blood vessels. They contain normal haemoglobin that efficiently carries oxygen from the lungs to all parts of the body and returns carbon dioxide to the lungs for removal. Healthy RBCs survive for about 120 days before being replaced by new cells produced in the bone marrow. Their flexibility ensures uninterrupted blood circulation and proper oxygen supply to tissues. Efficient functioning of normal RBCs is essential for maintaining energy levels, organ function, and overall health.

5. Disordered Red Blood Cells