World’s First Gene Therapy Treatment For Sickle Cell Disease:
The United Kingdom’s drug regulator recently approved the world’s first gene therapy treatment for sickle cell disease and thalassemia.
- Sickle Cell Disease is an inherited blood disorder.
- It is marked by flawed haemoglobin.
- Haemoglobin is the molecule in red blood cells (RBCs) that carries oxygen to the tissues of the body.
- People with this disease have atypical haemoglobin molecules called haemoglobin S, which can distort RBCs into a sickle, or crescent, shape.
- Sickle cell disease interferes with the delivery of oxygen to the tissues.
- Normally, RBCs are disc-shaped and flexible enough to move easily through the blood vessels.
- In sickle cell disease, 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.
- The cause of Sickle cell disease is a defective gene called a sickle cell gene.
- A person will be born with sickle cell disease only if two genes are inherited—one from the mother and one from the father.
- Thalassemia is an inherited blood disorder caused when the body doesn’t make enough haemoglobin. When there isn’t enough haemoglobin, the body’s RBCs don’t function properly, and they last shorter periods of time, so there are fewer healthy RBCs travelling in the bloodstream.
Symptoms:
- Early stage: Extreme tiredness or fussiness from anaemia, painfully swollen hands and feet, and jaundice.
- Later stage: Severe pain, anaemia, organ damage, and infections.
Treatments:
- A bone marrow transplant (stem cell transplant) can cure sickle cell disease.
- 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 sickle cell disease
