Sickle Cell Disease
The term, sickle cell disease, refers to a group of inherited blood disorders. People have sickle cell disease from birth. It occurs when a person inherits one sickle cell gene from each parent.
Sickle cell disease primarily affects those of African ancestry, but can also affect those of Hispanic, Mediterranean, Middle Eastern, and South Asian descent.
What is Sickle Cell Disease?
Sickle cell disease affects hemoglobin — a protein found in red blood cells that carries oxygen from the lungs to all parts of the body. This inherited blood disorder causes the body to produce abnormal hemoglobin, causing the red blood cells to develop the sickle, or crescent, shape associated with the disease.
Sickle cells are rigid and sticky. They become lodged in blood vessels, blocking proper blood flow. This blockage can cause serious complications.
Sickle cell disease and anemia
You may have heard people interchange the terms sickle cell anemia and sickle cell disease. This is not entirely accurate.
Here’s the difference:
When a doctor diagnoses you with anemia, it means that you have a lower than normal level of red blood cells. Doctors treat anemia caused by simple iron deficiency with iron supplements. But people with sickle cell disease become anemic because their red blood cells only live about 10 to 20 days instead of the normal 120 days. Because the red blood cells die so quickly, the bone marrow producing new red blood cells cannot keep up with the body’s need for them.
Sickle cell trait
Some people have what’s called sickle cell trait. If you inherit only one sickle cell gene from one parent, you have sickle cell trait, but you also have a gene for normal hemoglobin.
People with sickle cell trait typically don’t have symptoms of the disease, but may pass the trait on to their children. Even though most people who carry the trait go through life with absolutely no complications, they can experience symptoms in certain situations.
According to Dr. Enrico Novelli, a sickle cell disease expert at UPMC and the University of Pittsburgh’s Vascular Medicine Institute,
“In rare circumstances — such as severe dehydration, extreme physical exertion, or exposure to very high altitude — persons with sickle cell trait may develop complications similar to those of sickle cell disease.”
Sickle Cell Disease Symptoms and Complications
Symptoms and complications of sickle cell disease typically begin to appear in infancy or early childhood.
The severity of symptoms varies by individual, but many experience complications that require frequent hospitalization, such as:
- Excruciating pain crises
- Serious infections
- Damage to vital organ systems
- Pulmonary hypertension (high blood pressure in the lungs’ blood vessels)
- Enlarged spleen
- Acute chest syndrome (life-threatening lung injury caused by blockage of the blood vessels in the lungs by sickle cells or bone marrow fat, or an infection like pneumonia)
- Severe anemia
Other symptoms of sickle cell disease may include:
- Bone and joint problems
- Vision damage
- Growth delay (in children)
- Organ system failure
Treating Sickle Cell Disease
At the UPMC Adult Sickle Cell Disease Program in Pittsburgh, Pa., we treat people, aged 21 and up, who have inherited blood disorders. And, the Pediatric Sickle Cell Program at Children’s Hospital of Pittsburgh of UPMC is the only medical center in western Pennsylvania that offers comprehensive care for children with sickle cell disease.
Treatment of sickle cell disease focuses on reducing the frequency of pain crises and controlling symptoms. There is only one FDA-approved drug for treating sickle cell disease. Through our research efforts, we plan to change that by developing new FDA-approved therapies and finding a viable cure appropriate for all or most people with sickle cell disease.
For now, some other treatments include:
- Blood transfusions — for treating pain episodes
- Pain medications
- Fluids — staying well hydrated can help prevent pain crises
- Oral or inhaled intravenous drug treatments (for pulmonary hypertension)
- Removal of gallbladder — for those with painful gallstones
- Splenectomy — partial or complete removal of the spleen
- Counseling for psychosocial needs of people with sickle cell disease
We are also committed to reducing the stigma associated with sickle cell disease and educating the public through awareness programs.