What is Sickle Cell Disease (SCD)?

About Sickle Cell Disease (SCD):

• It is an inherited blood disorder. It is marked by flawed hemoglobin. 
  • Hemoglobinis the molecule in red blood cells (RBCs) that carries oxygen to the tissues of the body.
• People with SCD have atypical hemoglobin molecules called hemoglobin S, which can distort RBCs into a sickle, or crescent, shape. SCD interferes with the delivery of oxygen to the tissues.
• How does it affect blood flow?
  • Normally, RBCs are disc-shaped and flexible enough to move easily through the blood vessels.
  • In SCD, RBCs become crescent- or “sickle”-shaped due to a genetic mutation.
  • These sickled RBCs do not bend or move easily and can block blood flow to the rest of the body.
• What causes it?
  • The cause of SCD is a defective gene, called a sickle cell gene.
  • A person will be born with SCD only if two genes are inherited—one from the mother and one from the father.
• Symptoms:
  • Early stage: Extreme tiredness or fussiness from anemia, painfully swollen hands and feet, and jaundice.
  • Later stage: Severe pain, anemia, organ damage, and infections.
• Treatment:
  • A bone marrow transplant (stem cell transplant) can cure SCD.
  • However, there are treatments that can help relieve symptoms, lessen complications and prolong life.
  • Gene therapy is also being explored as another potential cure.
  • The UK recently became the first country to approve gene therapy treatment for SCD.