Symptoms & Diagnosis
Recognizing the signs of sickle cell disease and understanding the diagnostic process.
Common Symptoms
Symptoms of sickle cell disease usually begin in early childhood, typically after 4 months of age. The severity and frequency of symptoms vary widely from person to person. Some people have mild symptoms while others are frequently hospitalized for more serious complications.
Pain Crisis
Periodic episodes of pain, known as pain crises or vaso-occlusive crises, are the most common symptom. These occur when sickled red blood cells block blood flow to tissues, causing pain that can be severe. Pain can occur anywhere in the body but often affects the chest, abdomen, joints, and bones.
Anemia
Sickle cells break down faster than normal red blood cells, which leads to anemia. Symptoms include fatigue, paleness, shortness of breath, dizziness, headaches, and coldness in the hands and feet.
Swelling of Hands and Feet
Swelling in the hands and feet, often accompanied by fever, is commonly one of the first symptoms of sickle cell disease in babies. This occurs because sickled red blood cells block blood flow out of the hands and feet.
Frequent Infections
People with sickle cell disease are more vulnerable to infections because the disease can damage the spleen, an organ that fights infection. Children are especially susceptible to bacterial infections that can be life-threatening.
Other Symptoms and Complications
- Delayed Growth: Children with sickle cell disease often grow more slowly and reach puberty later than their peers.
- Vision Problems: Sickled cells can block blood vessels in the eye, potentially leading to vision problems or even blindness.
- Acute Chest Syndrome: A serious complication characterized by chest pain, fever, and difficulty breathing.
- Stroke: Sickled cells can block blood flow to the brain, causing a stroke. This can result in learning problems, disability, or even death.
- Priapism: A painful, prolonged erection that can occur when sickled cells block blood vessels in the penis.
- Organ Damage: Over time, sickle cell disease can damage organs such as the liver, kidneys, and spleen.
Diagnosis
In the United States and many other countries, all newborns are screened for sickle cell disease as part of routine newborn screening. Early diagnosis is crucial for implementing preventive measures and treatment.
Diagnostic Tests
- Blood Tests: A complete blood count (CBC) can reveal anemia, and a blood smear may show sickle-shaped cells.
- Hemoglobin Electrophoresis: This test identifies the types of hemoglobin present in the blood and can diagnose sickle cell disease and trait.
- High-Performance Liquid Chromatography (HPLC): Another method to identify different types of hemoglobin.
- Genetic Testing: DNA analysis can confirm the diagnosis and identify specific mutations.
Prenatal Diagnosis
Sickle cell disease can be diagnosed before birth through procedures such as:
- Chorionic Villus Sampling (CVS): Usually performed at 10-12 weeks of pregnancy.
- Amniocentesis: Usually performed at 15-20 weeks of pregnancy.