What is Sickle Cell Anemia?
Sickle cell anemia is a genetic blood disorder caused by a mutation in the HBB gene, which leads to the production of abnormal hemoglobin called hemoglobin S. This abnormal hemoglobin causes red blood cells to become rigid and shaped like a crescent or sickle, reducing their ability to carry oxygen and causing them to break down prematurely. The disease is inherited in an autosomal recessive pattern, meaning a child must receive two copies of the defective gene to develop the condition.
Key Features
- Red blood cells have a sickle or crescent shape instead of the normal round shape
- Cells are less flexible and more likely to block blood flow
- Leads to anemia, pain episodes, and potential organ damage
- More common in individuals with ancestry from Africa, the Mediterranean, the Middle East, and parts of India
Common Symptoms
- Chronic anemia (low red blood cell count)
- Episodes of severe pain (sickle cell crises)
- Swelling in hands and feet
- Frequent infections due to spleen damage
- Delayed growth or puberty
- Vision problems from blood vessel blockages in the eyes
How to Reduce the Risk
- Carrier screening to check if you or your partner carry the sickle cell trait
- Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) during IVF to select embryos free from sickle cell mutations
- Prenatal genetic testing for early detection during pregnancy
- Genetic counseling to understand risks and reproductive options