Definition
Sickle Cell Anemia ek genetic blood disorder hai jisme red blood cells (RBCs) ka normal round aur flexible shape badal kar crescent ya sickle (C-shape) ho jata hai. Ye cells rigid aur fragile ho jaate hain jisse blood flow block hota hai aur oxygen transport decrease hota hai — jisse pain, anemia aur organ damage ho sakta hai.
Epidemiology
● Common in African, Indian, Middle Eastern population.
● Inherited disease — both parents ke genes se pass hota hai.
● Usually diagnosed in infancy or early childhood.
Cause
● Mutation in HBB gene on chromosome 11 → abnormal Hemoglobin S formation.
Risk Factors
● Family history of sickle cell disease.
● Both parents carrier of sickle cell trait.
● Low oxygen conditions (high altitude, dehydration, infection) trigger sickling.
Pathophysiology
● Abnormal Hemoglobin S polymerize karta hai jab oxygen kam hota hai → RBCs sickle shape me deform ho jaate hain.
● Sickled RBCs fragile hote hain → premature destruction (hemolysis) → anemia.
● Sickled cells blood vessels me chipak jaate hain → vaso-occlusion → pain crisis aur tissue ischemia.
● Chronic hypoxia → organ damage (spleen, liver, kidney, brain).
Symptoms
● Fatigue, weakness, pallor (due to anemia).
● Pain crises: Sudden severe pain (chest, abdomen, joints, bones).
● Delayed growth & puberty in children.
● Jaundice (due to RBC breakdown).
● Swelling of hands and feet (dactylitis).
● Frequent infections (due to spleen damage).
● Vision problems due to retinal damage.
Complications
● Stroke (especially in children).
● Acute chest syndrome.
● Chronic organ failure (kidney, heart, spleen).
● Leg ulcers.
● Priapism (painful prolonged erection in males).
Diagnosis
● CBC → anemia with sickled RBCs.
● Sickling test (positive).
● Hemoglobin electrophoresis → confirm presence of HbS.
● Genetic testing for carrier detection.
Treatment
Medical Management:
● Hydroxyurea: Increases fetal hemoglobin (HbF) → reduces sickling.
● Blood transfusion: For severe anemia or crisis prevention.
● Folic acid supplements: Support RBC production.
● Antibiotics & vaccines: Prevent infections.
● Bone marrow transplant: Only curative option (in selected cases).
Pain Crisis Management:
● Adequate hydration (IV fluids).
● Oxygen therapy.
● Analgesics (NSAIDs, opioids for severe pain).
● Monitor for infection & complications.
Nursing Management
● Monitor vital signs & oxygen saturation.
● Maintain hydration & administer fluids.
● Provide warm environment (avoid cold exposure).
● Pain assessment & management.
● Administer prescribed medications & transfusions.
● Educate patient & family:
→Avoid dehydration, stress, and infection.
→Regular follow-up & vaccination.
● Psychological support for chronic illness.
Prevention
● Genetic counseling for carrier parents.
● Avoid triggers (cold, stress, dehydration).
● Regular check-ups & medication compliance.
● Early detection & treatment of infection.
Prognosis
● Chronic but manageable disease.
● With modern treatment (Hydroxyurea, transfusion), patients can live near-normal lifespan.
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