What is Sickle Cell Disease (SCD)?

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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