What is Sickle Cell Disease (SCD)?

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What is Sickle Cell Disease (SCD)? Blog Image

Overview:

Recently, a 12-year-old boy from USA, became the first person in the world with sickle cell disease to begin a commercially approved gene therapy that may cure the condition.

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.
  • People with SCDhaveatypical 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 inheritedone 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 bone marrow?

Bone marrow is a soft, spongy tissue found in the cavities of certain bones in the human body. It is a crucial part of the human circulatory system and plays a vital role in blood formation, immune function, and the storage of fat.

Source: In a 1st, US patient begins gene therapy for sickle cell disease