Sickle Cell Disease : Study
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.
- Sickle Cell Disease (SCD) 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.
- 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.
- 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.
- Early stage: Extreme tiredness or fussiness from anemia, painfully swollen hands and feet, and jaundice.
- Later stage: Severe pain, anemia, organ damage, and infections.
