Sickle Cell Disease
Sickle Cell Disease (SCD) is a group of inherited red blood cell disorders. Normally, red blood cells are round, flexible, and carry oxygen throughout your body. In SCD, a genetic mutation causes red blood cells to become stiff, sticky, and shaped like a C (sickle). These sickle cells don't carry oxygen efficiently, can block blood flow in small vessels, and have a shorter lifespan than healthy red blood cells, leading to a shortage of red blood cells (anemia). This condition is inherited, meaning it's passed down through families. It occurs when a person inherits two copies of a specific abnormal gene (hemoglobin S) – one from each parent. Hemoglobin is the protein in red blood cells that carries oxygen. The presence of sickle cells leads to a range of complications, including chronic and acute pain (often called sickle cell crises), severe anemia, frequent infections, and damage to vital organs over time due to blocked blood flow and reduced oxygen delivery. Lab tests play a crucial role in diagnosing Sickle Cell Disease, determining its specific type, and monitoring your health if you have the condition. Tests like a complete blood count (CBC) and hemoglobin electrophoresis are essential to identify the presence and amount of sickle hemoglobin and assess related issues like anemia. Your lab results help your healthcare team understand the severity of your condition, predict potential complications, and guide personalized treatment plans to manage symptoms and improve your quality of life.
Common Symptoms
- Severe, episodic pain (sickle cell crises)
- Chronic fatigue and weakness (due to anemia)
- Swelling of hands and feet (especially in young children)
- Increased susceptibility to infections
- Yellowish skin or eyes (jaundice)
Clinical Sources
- Sickle Cell Disease (SCD) Symptoms, Causes & TypesCleveland Clinic
- Sickle Cell Anemia: Symptoms, Causes & TreatmentCleveland Clinic
- Sickle cell disease: MedlinePlus GeneticsMedlinePlus
Diagnostic Lab Tests
Tests commonly used to diagnose or monitor Sickle Cell Disease:
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