Sickle Cell Disease

What Is Sickle Cell Disease?

Sickle cell disease (SCD) is a genetic blood disorder that affects how red blood cells carry oxygen throughout the body. Normally, red blood cells are round and flexible, allowing them to move easily through blood vessels. In SCD, these cells become stiff and shaped like a crescent or “sickle.”

The misshapen cells can clump together, blocking blood flow and reducing oxygen delivery to organs and tissues. This can cause pain, fatigue and serious complications such as stroke, infection or organ damage.

Sickle cell disease is inherited when a person receives one abnormal hemoglobin gene (called hemoglobin S) from each parent. People who inherit only one sickle gene have sickle cell trait and they usually don’t have symptoms but can pass the gene to their children.

What Causes Sickle Cell Disease?

SCD is caused by a mutation in the gene that makes hemoglobin, the protein in red blood cells that carries oxygen. The abnormal form of the protein, called hemoglobin S, causes red blood cells to take on a sickle shape when they release oxygen.

When these sickle cells stick together or break down too soon, they can lead to:

• Anemia: A shortage of healthy red blood cells
• Pain crises: Episodes of severe pain caused by blocked blood flow
• Organ damage: From lack of oxygen to tissues over time
  
  

Sickle cell disease is not contagious and is passed genetically from parents to children.

Signs and Symptoms of Sickle Cell Disease

Symptoms of Sickle cell disease can vary from person to person and may change over time. Common signs include:

• Anemia: Fatigue, weakness or pale skin due to low red blood cell count
• Pain episodes (crises): Sudden, severe pain that can affect the chest, arms, legs or joints
• Swelling in hands and feet, also known as hand-foot syndrome
• Frequent infections due to spleen damage
• Delayed growth or puberty
• Vision problems caused by blocked blood flow in the eyes
  
  

Some people may also experience shortness of breath, dizziness or jaundice, which involves yellowing of the skin or eyes.

Serious complications can include stroke, pulmonary hypertension, kidney damage or chronic pain.

How Is Sickle Cell Disease Diagnosed?

SCD is typically diagnosed through a simple blood test that looks for the presence of hemoglobin S. In the United States, newborn screening programs test all babies for sickle cell disease shortly after birth.

Additional tests may include:

• Hemoglobin electrophoresis – identifies different types of hemoglobin in the blood
• Genetic testing – determines whether a person carries the sickle cell trait or disease
• Blood counts and imaging – to monitor anemia, organ health and complications
  
  

Early diagnosis allows for prompt treatment and preventive care, reducing the risk of severe complications.

How Is Sickle Cell Disease Treated?

While there is no universal cure for sickle cell disease, treatments can help manage symptoms, reduce complications and improve quality of life.

At-Home Care and Lifestyle Management

• Stay well-hydrated to prevent sickling of cells.
• Avoid extreme temperatures and high altitudes, which can trigger pain crises.
• Eat a balanced diet rich in iron and vitamins.
• Get regular exercise and enough rest.
  
  

Medical Treatments

• Medications:
  
  • Hydroxyurea can help reduce pain episodes and the need for blood transfusions.
  • Voxelotor and crizanlizumab are newer drugs that improve red blood cell health and reduce blockages.
    
    
• Blood transfusions: Help manage anemia and lower the risk of stroke.
• Bone marrow or stem cell transplant: The only potential cure for SCD, usually considered for children with severe cases and a matching donor.
• Vaccinations and antibiotics: Help prevent serious infections.
  
  

Your health care provider may also recommend pain management strategies, counseling and routine monitoring to prevent complications.

How to Prevent Sickle Cell Disease

Because sickle cell disease is inherited, it cannot be prevented after birth but its complications can be managed and reduced through early care and education.

Prevention Tips

• Genetic counseling: Couples with a family history of SCD can meet with a counselor to understand their risks before having children.
• Prenatal testing: Screening during pregnancy can detect SCD in the fetus.
• Regular checkups: Routine visits with a hematologist or primary care provider help prevent severe complications.
• Vaccinations and healthy lifestyle choices: Reduce infection risk and support long-term health.
  
  

Education and awareness play a major role in helping families understand and manage sickle cell disease effectively.

If you or a loved one has sickle cell disease, or if you carry the sickle cell trait, regular medical care and early intervention can make a life-changing difference.

At Riverside Health, we provide comprehensive care for patients with blood disorders, including sickle cell disease. Our specialists work closely with families to manage symptoms, prevent complications and support long-term wellness through personalized treatment plans.

Visit riversideonline.com to schedule an appointment or learn more about managing sickle Cell Disease with expert care close to home.