What is Sickle Cell Disease (SCD)?

About Sickle Cell Disease (SCD):

• It is an inherited blood disorder.
• It is marked by flawed hemoglobin. 
  • Hemoglobin is the molecule in red blood cells (RBCs) that carries oxygen to the tissues of the body.
• How does it affect blood flow?
  • Normally, RBCs are disc-shaped and flexible enough to move easily through the blood vessels.
  • People with SCD have atypical hemoglobin molecules called hemoglobin S, which can distort RBCs into a sickle, or crescent, shape.
  • These sickled RBCs do not bend or move easily and can block blood flow to the rest of the body.
  • SCD interferes with the delivery of oxygen to the tissues.
• 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.
• Treatments:
  • 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.

Q1: What is a bone marrow transplant?

A bone marrow transplant is a procedure that infuses healthy blood-forming stem cells into your body to replace bone marrow that's not producing enough healthy blood cells. A bone marrow transplant is also called a stem cell transplant.

Source: Healthy Returns: Pfizer pulls sickle cell disease drug from markets – here’s why it matters