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What is sickle cell disease?
Sickle cell disease (SCD) is a genetic condition. It runs in families and is more common in certain races, including African-American. SCD refers to a group of red blood cell disorders. Normal red blood cells are round and flexible. They contain hemoglobin (a protein), which carries oxygen in your blood.
With SCD, some red blood cells are misshapen and look like sickles (a C-shaped farm tool). These sickle cells become hard and sticky. They can get stuck when traveling through small blood vessels. This slows or blocks blood and oxygen to parts of your body. Sickle cells also contain an abnormal type of hemoglobin. This causes the cells to die early.
There are several forms of SCD. They vary based on the sickle cell and hemoglobin genes you inherit from your parents. HbSS is the most common form. It is known as sickle cell anemia. It also is the most severe form of SCD. People who have HbSS get 2 sickle cell genes, 1 from each parent.
Another form of SCD is sickle cell trait. People who have this get 1 sickle cell gene from a parent and 1 normal gene from the other parent. Typically, they do not have SCD symptoms but they can pass the sickle cell gene on to their kids.
Symptoms of sickle cell disease
Anemia is a common symptom of SCD. It occurs from a lack of red blood cells to carry oxygen. Side effects of anemia include:
- shortness of breath
- coldness in your hands and feet.
Other symptoms of SCD include:
- jaundice (the yellowing of skin and whites of your eyes)
- swollen hands and feet
- severe chronic pain (called crises)
- severe infections
- organ damage.
What causes sickle cell disease?
SCD is a condition you inherit from your parents. It is a genetic disease that you have from birth.
How is sickle cell disease diagnosed?
SCD is diagnosed with a simple blood test. It often is included in routine newborn screening tests at birth in the hospital. It is important to test babies for SCD. Early diagnosis and treatment can help prevent and manage symptoms of SCD.
Talk to your doctor if you or your partner has SCD or if it runs in your family. If you are trying to get pregnant, they can tell you options for genetic counseling. Women who have SCD and are pregnant should receive extra care to find and treat problems early. Your baby can be tested for SCD during pregnancy.
Can sickle cell disease be prevented or avoided?
SCD cannot be prevented since it is genetic.
Sickle cell disease treatment
Treatment for SCD varies for each person. It is based on your form of SCD, your symptoms, and your overall health. Most treatment options aim to reduce symptoms and prevent complications.
Pain crises are a common symptom of SCD. They occur when your body lacks oxygen to your tissue. Crises are hard to predict. However, there are things you can do to help prevent them.
- Visit the doctor for regular check-ups.
- Do not smoke. If you do smoke, quit. Your doctor can help with patches, pills, and support.
- Eat a balanced diet.
- Limit how much alcohol you drink.
- Exercise regularly. Drink a lot of fluids when you exercise to prevent dehydration.
- Drink at least eight glasses of water a day, especially in warm weather.
- Wash your hands regularly to prevent infection and illness.
- Try to reduce stress. Talk to your doctor if you’re depressed or have problems at home or work.
- Contact your doctor if you have a fever or possible infection. Illnesses should be treated as soon as possible.
- Try not to get too hot, cold, or tired. Dress properly for the weather. Get rest when needed.
- Tell your doctor if you think you have a sleep problem, such as snoring or sleep apnea. This is when you stop breathing for short periods of time while you sleep.
- Manage other health issues you have, such as diabetes. Talk to your doctor if you are pregnant or plan to become pregnant. They can tell you about genetic counseling and get you started with prenatal care early on.
- Only travel in commercial airplanes. If you have to travel in an unpressurized aircraft, talk to your doctor about extra precautions.
New treatment options have been introduced in recent years. These include bone marrow and stem cell transplants. These two treatments can cure SCD when successful. Transplants require a donor and are very risky. They typically only are approved for severe cases. They involve taking bone marrow or stem cells from the donor and implanting them into your body. Transplants have a lot of side effects and can result in death when not successful.
Living with sickle cell disease
SCD is a life-long condition. For most people, there is no cure. A managed lifestyle is the best way to reduce symptoms and complications, and prolong life.
Questions to ask your doctor
- Are there medicines I can take to treat SCD?
- If my partner and I have SCD, what is the chance our children will have it?
- What are possible health complications of SCD?
- How do I know if I qualify for a bone marrow or stem cell transplant?
- What is the life expectancy of someone who has SCD?
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This information provides a general overview and may not apply to everyone. Talk to your family doctor to find out if this information applies to you and to get more information on this subject.