What Causes Sickle Cell Disease (SCD)?
- Sickle Cell Disease (SCD) is an inherited blood disorder, meaning it is a condition that is passed down through families.
- The condition is characterized by abnormal hemoglobin (a protein that carries oxygen) in the blood. Normal red blood cells are round and pass through vessels easily, but SCD causes the cells to change shape (to a C or sickle shape).
- The sickle cells tend to die off quicker, can disrupt blood flow because they may stick rather than move smoothly through vessels, and can damage organs.
- Treatment for SCD can vary depending on what type a person has, the severity of the disease, their overall health, and other factors.
“The primary problem with this disease is an abnormal hemoglobin,” Dr. Sophie Lanzkron, Director of the Sickle Cell Center for Adults at Johns Hopkins, tells SurvivorNet.
Read MoreIn the U.S., most people are diagnosed with the genetic disorder shortly after birth, since newborns are typically tested for SCD. Monitoring and treatment can begin shortly thereafter.
Where Sickle Cell Disease Gets Its Name
“Sickle” cell disease refers to the changed shape of red blood cells.
Blood cells are typically shaped like a disc, but with this disease, they change into the shape of a C. It resembles the curved farming tool called a sickle, and that is where it gets its name.
If you are diagnosed with SCD, you may hear a doctor use the term “sickling.” This refers to the process of red blood cells changing shape.
“That’s what we think of as sickling when those red cells change their shape,” Dr. Lanskron explains.
Sickle Cell Disease Symptoms
Complications of sickle cell disease can result from poor circulation.
When the cells change shape and become stiff and sticky, they no longer move easily through blood vessels. They may get stuck and block blood flow. These cells tend to die off quickly, and proper oxygen does not reach tissues.
This can lead to severe pain known as pain crises. It can occur in various parts of the body, such as the chest, abdomen, bones and joints.
Patients can also experience:
- Low red blood cell counts (anemia).
- Jaundice (yellowing of the skin).
- Swelling of hands and feet
- Frequent infections
- Organ damage
Sickle cells can damage the spleen, which normally helps filter infections out of the blood. Without a healthy, functioning spleen, patients are more at risk for infections.
Sickle Cell Disease Treatment
Treatment for sickle cell disease may depend on the type you have and the symptoms you’re experiencing and their severity.
According to Stanford Medicine, possible treatment options include:
- Pain medication
- Blood transfusions, to help with anemia (low red blood count) and other conditions associated with the disease
- Vaccines and antibiotics, to protect from infection
- Folic acid
- Stem cell transplant
- Hydroxyurea (sold under brand names Hydrea and Droxia), a medication that can reduce the number of sickle cells in the blood
Other interventions, such as staying well hydrated and avoiding cold weather, can also help with symptoms caused by SCD.
Questions to Ask Your Doctor
If you've been diagnosed with sickle cell disease, here are some questions you may consider asking your doctor to help understand your situation:
- What type of SCD do I have?
- How should I be monitoring my symptoms?
- Which treatment option makes most sense for me and my symptoms?
- Can I make lifestyle adjustments to help manage my disease?
- What activities should I avoid due to SCD?
- How will my treatment progress be monitored?
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