Sickle Cell Anemia
What is Sickle Cell Anemia?
Sickle Cell Anemia is a serious form of inherited anemia caused by a mutation in the gene for hemoglobin. In individuals with Sickle Cell Anemia, abnormal hemoglobin causes red blood cells to take on a distinctive curved shape, hence the name "sickle". Sickle cells are stiff and sticky and tend to form clumps that can block small blood vessels in the body. This blockage can interrupt the flow of oxygen and lead to pain, organ damage and even death.
What Causes Sickle Cell Anemia?
Sickle cell anemia is an autosomal recessive disorder, which means that an individual must inherit two copies of the gene for hemoglobin, one from each parent, for the disorder to occur. If a person inherits only one copy of the gene, they will be a carrier of the disorder but may not have any symptoms. If both parents are carriers, a child has a 25 percent chance of inheriting both copies of the gene and developing the disorder.
What Are the Symptoms of Sickle Cell Anemia?
The main symptom of Sickle Cell Anemia is a chronic shortage of red blood cells, or anemia. Other symptoms may include:
- Frequent and/or severe pain as a result of blocked blood vessels
- Delayed growth and development
- Jaundice (a yellowing of the skin and eyes)
- Frequent infections
- Pale skin
- Fatigue
- Swollen extremities
- Confusion
Diagnosing and Treating Sickle Cell Anemia
Sickle Cell Anemia is usually diagnosed with a blood test. Treatment typically includes medications to reduce pain and prevent infection, as well as blood transfusions and/or bone marrow transplants for those with severe forms of the disorder. Patients may also benefit from oxygen therapy, physical therapy, and lifestyle modifications such as eating a healthy diet and avoiding smoking.
Living with Sickle Cell Anemia
Living with Sickle Cell Anemia is a lifelong challenge, but with proper medical care, many individuals with the disorder can live long and productive lives. Treatment can reduce the severity of symptoms and reduce the risk of organ damage and other complications. It is important for patients to stay informed about the disorder, follow their doctor’s instructions, and keep up with regular check-ups.