What Causes Cells to Sickle?

Sickle cell disease is caused by genetic mutations in the beta-globin gene that helps make hemoglobin. The abnormal hemoglobin S gene can cause hard, nonliquid protein strands to form within red blood cells that can change the shape of the cell, causing the sickled shape of the cell.

Sickle cell disease refers to groups of inherited disorders that affect the body’s red blood cells. Red blood cells are responsible for carrying oxygen to the organs in the body using a protein called hemoglobin.

• Normal red blood cells are disc-shaped and flexible to 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 the 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 disease is caused by genetic mutations in the beta-globin gene that helps make hemoglobin. The abnormal hemoglobin S gene can cause hard, nonliquid protein strands to form within red blood cells that can change the shape of the cell, causing the sickled shape of the cell.

Sickle cell disease is present at birth but symptoms usually don’t start until a baby is about 5 or 6 months of age. 

Early symptoms of sickle cell disease may include:

• Yellow skin or eyes (jaundice)
• Fatigue or fussiness from anemia
• Painful swelling of the hands and feet (dactylitis)

Sickle cell disease is diagnosed with a blood test called hemoglobin electrophoresis.

• All newborns in the U.S. are tested for sickle cell disease before leaving the hospital. 
• The same blood test can also show if a baby has sickle cell trait, though parents may not always be informed if a baby has sickle cell trait. 
• Some parents may have genetic testing for the sickle cell gene before attempting to conceive to determine the risk of having a baby with sickle cell disease. 

The only cure for some patients who have sickle cell disease is a blood and bone marrow transplant. However, this treatment does not work for all patients. Other treatments for sickle cell disease include medicines or transfusions to manage complications, including chronic pain.

Treatment for sickle cell disease 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
  • Voxelotor (Oxbryta), L-glutamine (Endari), and crizanlizumab (Adakveo) to help decrease pain episodes
  • Hydroxyurea (Droxia, Hydrea) to help the body produce more normal red blood cells 
  • Medicines to prevent and treat infections
    • Vaccines, including a yearly flu shot, to help prevent infections
    • Daily antibiotics such as penicillin to help prevent infections in young children
  • Pain medicines 
• 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; however, it’s not routinely performed because it has numerous side effects and patients must meet certain criteria
• Gene therapy (under investigation as a potential treatment)

Sickle cell disease can affect all major organs. Complications of sickle cell disease include:

• Increased infections, which can be severe and even life-threatening
• Leg ulcers
• Early gallstones
• Kidney damage and loss of body water in the urine
• Eye damage
• Multiple organ failure
• Severe anemia
• Lung problems 
• Stroke
• Acute chest syndrome
• Acute pain crisis (also called sickle cell or vaso-occlusive crisis)
• Chronic pain
• Delayed growth and puberty
• Heart problems
• Joint problems
• Liver problems 
• Pregnancy problems including high blood pressure, blood clots, miscarriage, premature birth, and low birth weight babies
• Priapism (prolonged, painful erection)