What Is the Main Cause of Sickle Cell Anemia?

Sickle cell anemia is caused by a genetic condition inherited from both parents. Sickle cell anemia is a disease in which people have some red blood cells with an abnormal crescent shape, which can cause blocked blood vessels, pain, and organ damage.

Sickle cell anemia is a type of sickle cell disease, an inherited disorder that affects the body’s red blood cells. 

• Red blood cells carry oxygen to the organs in the body using a protein called hemoglobin.
• Normal red blood cells are disc-shaped and flexible so they can fit through small blood vessels.
• People who have sickle cell disease have some red blood cells with an abnormal crescent shape that resembles a farming tool called a sickle, which is how the disease got its name. 
• These sickle cells can catch on one another or stick to blood vessel walls where they can accumulate and cause blood vessels to become blocked. Blocked blood vessels prevent the organs from getting the oxygen they need which can result in pain or organ damage. 
• Sickle cell anemia is caused by a genetic condition inherited from both parents. A person must inherit the sickle cell gene from both parents in order to develop sickle cell anemia. 
• If a person gets the sickle cell gene from just one parent, they will have other forms of sickle cell disease, or they will have “sickle cell trait,” in which a person has some minor health risks, no symptoms are present, and the gene can be passed to their children.

Symptoms of sickle cell anemia frequently begin when a baby is a few months old and may include: 

• Pain crisis, also called sickle crisis
  • May be mild or severe
  • Can last hours to days
  • In the bones, chest, or other parts of the body
  • In babies
    • Pain in the hands and feet with swelling and redness 
  • In older children and adults 
    • Pain in the chest 
    • Trouble breathing
    • Fever
    • Coughing
    • Pain in the bones
  • In the bone or joints in the shoulder or hips (called osteonecrosis or avascular necrosis)
• Severe anemia 
  • Tiredness/fatigue
  • Dizziness
  • Weakness
  • Shortness of breath
• Lung problems 
  • Difficulty breathing
  • Chest pain
  • Asthma
  • Sleep apnea 
  • Acute chest syndrome
    • Can be life-threatening
    • Often occurs suddenly and resembles pneumonia 
    • Pain
    • Violent cough
    • Fever
• Severe and sometimes life-threatening infections
• Stroke
• Yellowing skin and eyes (jaundice)
• Open sores on the skin (usually on the legs)
• In men, a painful erection that lasts too long (priapism) 

Sickle cell anemia treatment is aimed at treating symptoms and preventing organ damage and infection. Treatment for sickle cell anemia is life-long and may include:

• Adequate hydration
  • Drink 8 to 10 glasses of water daily to prevent and treat pain crises
  • Intravenous (IV) fluids may be needed in some cases
• Medications
  • Hydroxyurea (Droxia, Hydrea) to help the body produce more normal red blood cells 
  • L-glutamine (Endari), voxelotor (Oxbryta), and crizanlizumab (Adakveo) to help decrease pain episodes
  • Medicines to prevent and treat infections
    • Daily antibiotics such as penicillin to help prevent infections in young children
    • Vaccines, including a yearly flu shot, to help prevent infections
  • Pain medications
• Folic acid (folate) supplementation to helps make red blood cells
• Blood transfusions to treat anemia and prevent stroke
• Bone marrow transplant (also called a stem cell transplant) 
  • This procedure can cure sickle cell disease but it’s not used regularly because it has many side effects and patients must meet certain criteria
• Gene therapy (under investigation as a potential treatment)