Blood Disorders: What Is Sickle Cell Disease

Sickle cell disease interferes with blood flow.

What is Sickle Cell Disease?

These inherited blood disorders make red blood cells stiff and crescent-shaped, rather than round. Because of that, blood can't flow easily through the blood vessels. This can cause flare-ups of severe pain, and lead to anemia, stroke, organ damage, and heart or liver failure. There's no cure for sickle cell disease. But you can manage the symptoms.

Sickle cell disease is caused by inheritance of two genes, one from each parent.

Causes of Sickle Cell Disease

Genes passed from parents to children cause it. They affect hemoglobin, a blood protein. Sickle cell anemia, which is severe, happens if you inherit two copies of the sickle cell gene -- one from each parent. Sickle cell trait happens if you have one copy plus one normal gene. That means you're probably healthy, but you could pass the trait to your kids. Getting a sickle cell gene and a different abnormal gene can cause mild to severe disease.

People of certain ethnicities are at higher risk for sickle cell disease compared to others.

Who Gets Sickle Cell

Up to 100,000 Americans have some form of sickle cell. It's more common among some races and ethnicities than others. If you have African ancestry, you're at the highest risk for sickle cell trait. You may also be at risk if your ethnicity is Hispanic, Mediterranean, Middle Eastern, Asian, or Indian.

Pain crises, anemia, swollen hands and feet, dark urine, yellow eyes, pale skin or nail beds, abdominal swelling and frequent infections are signs and symptoms of sickle cell disease.

Signs and Symptoms

Periodic episodes of pain, called pain crises, are the major and most frequent sickle cell symptom. You may also have anemia, which leaves you very tired. Other symptoms are swollen hands and feet, dark urine, yellow eyes, pale skin or nail beds, a swollen belly, and frequent infections. Stroke symptoms like facial weakness or slurred speech can point to sickle cell, too.

Babies are screened for sickle cell disease shortly after birth.

Diagnosis

In the U.S., every baby gets a blood test at birth that shows if they have sickle-shaped cells. Older children and adults can get this blood test, too. Doctors can also screen a fetus for the genes that cause sickle cell disease early in pregnancy. They draw out a sample of amniotic fluid from the womb to do the test.

Children who have sickle cell disease should be screened for stroke.

Stroke Risk Screening

Sickle cell disease can cause even young children to have a stroke. Toddlers as young as 2 may get a screening for stroke risk with a quick, painless ultrasound test to measure their blood flow. Some children with sickle cell need regular blood transfusions to prevent strokes.

Sickle cell disease can lead to strokes, high blood pressure, and other symptoms.

Complications of Sickle Cell Disease

This disease can lead to strokes, high blood pressure in your lungs, organ damage, leg ulcers, blindness, and gallstones. Sickle cell can also cause acute chest syndrome, a potentially deadly condition that involves chest pain, fever, cough, and a hard time breathing. Men with sickle cell may get long-lasting, painful erections (priapism) or become impotent. Women can have complicated pregnancies.

New drugs may help treat sickle cell symptoms and prevent serious problems due to the condition.

The Latest Treatments

Three new drugs may help treat sickle cell symptoms and prevent the serious problems that can arise from the condition. Crizanlizumab (Adakveo) and L-glutamine oral powder (Endari) can help make severe pain episodes happen less often. And voxelotor (Oxbryta) improves anemia.

Antibiotics and other treatments may be prescribed to treat sickle cell disease.

Other Treatments

Children with sickle cell disease often take penicillin, an antibiotic, twice daily to prevent severe infections. Most pediatricians stop this treatment at age 5. Hydroxyurea is another drug that can cut down the number of pain flares you have. Non-steroidal anti-inflammatory drugs (NSAIDs), like acetaminophen and ibuprofen, can also help with pain.

Blood transfusions are one type of sickle cell disease treatment.

Blood Transfusion

Blood transfusions can raise levels of healthy red blood cells. Having more normal blood cells can ease other symptoms of the disease. You may need a transfusion if you have a stroke, acute chest syndrome, or organ failure, or before surgery to prevent complications.

Stem cell transplants from a compatible donor may cure some children who have sickle cell disease.

Stem Cell Transplant

For some people, a stem cell transplant can cure sickle cell disease. This replaces your blood-forming stem cells with new healthy ones. You'll need a relative who is a good genetic match to donate tissue for the procedure. Children with severe complications often get a transplant. But transplants don't always work in older adults. And they come with the risk of infections, seizures, and, in rare cases, death.

Gene therapy may one day offer a cure for sickle cell disease.

Gene Therapy

It's not available yet, but this could one day be a treatment for sickle cell. Doctors would remove blood or bone marrow tissue from your body. They'd repair the faulty genes in a lab, then inject them back into your blood to produce healthy red blood cells. For now, gene therapy is still in the research stage.

Adopting certain helpful lifestyle changes can help you manage sickle cell disease.

Living with Sickle Cell Disease

You can manage some symptoms. Get regular exercise at a pace you can handle. Drink plenty of water and don't smoke to cut your risk of pain episodes. Get folic acid from fresh veggies, whole grains, or supplements to help your bone marrow make more red blood cells. Get a flu shot and other vaccines you need to prevent infections. See your doctor regularly to spot complications. Take OTC pain meds and drink fluids when a flare starts.

Some people can go years without symptoms with sickle cell disease.

Outlook

Sickle cell disease is a lifelong condition you have to manage. With a healthy lifestyle and new medications, you can live longer and have a better quality of life. With good control of the disease, some people go years without symptoms.

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REFERENCES:

  • Cleveland Clinic: "Sickle Cell Disease."
  • Mayo Clinic: "Sickle cell anemia."
  • National Heart, Lung, and Blood Institute: "Sickle Cell Disease."
  • CDC: "Sickle Cell Disease (SCD)."
  • American Society of Hematology: "Sickle Cell Disease."
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