Sickle cell disease (SCD) is a hereditary blood disorder. This means it's passed down through families.
Here's the breakdown:
- Genetic: SCD is caused by a change in the gene that makes hemoglobin, a protein in red blood cells that carries oxygen. This change leads to the production of abnormal hemoglobin, called sickle hemoglobin.
- Disorder: This abnormal hemoglobin causes red blood cells to become stiff and sickle-shaped, like a crescent moon. These sickle cells are fragile and can get stuck in blood vessels, blocking blood flow and causing pain, organ damage, and other health problems.
SCD is a type of autosomal recessive genetic disorder. This means:
- Autosomal: The gene responsible for SCD is located on one of the 22 non-sex chromosomes (autosomes).
- Recessive: A person needs to inherit two copies of the sickle cell gene, one from each parent, to develop SCD. If a person inherits only one copy, they are a carrier and usually don't have symptoms, but can pass the gene to their children.
Understanding the inheritance pattern:
- Both parents carriers: There's a 25% chance their child will have SCD, a 50% chance their child will be a carrier, and a 25% chance their child will not have the gene.
- One parent with SCD, one parent carrier: There's a 50% chance their child will have SCD and a 50% chance their child will be a carrier.
Key points to remember:
- SCD is not contagious. It's a genetic condition, not an infection.
- There is no cure for SCD, but treatments can manage symptoms and prevent complications.
- Early diagnosis and management are crucial for improving the quality of life for people with SCD.