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What is sickle cell disease?

August 17, 2022

Primary Care
 Young Black Dad Holding And Kissing Adorable Newborn Baby At Home

Sickle cell disease (SCD) is an inherited blood disorder. It occurs when flat and round red blood cells become hard and sticky— and take the C-shaped form of a sickle. 

“Healthy red blood cells carry oxygen from the lungs to different parts of the body,” says Melanie Ames, FNP, a Family Nurse Practitioner at Charlie W. and Golden Bethune Hill Community Health Clinic. “Because of their shape, sickle cells can get stuck in blood vessels and block oxygen and blood from getting to the organs and tissues that need them. Blocking oxygen and blood flow causes pain and other health problems, like infection and stroke.”

Sickle cells also don’t live as long as normal red blood cells. Their shorter life span leads to a constant shortage of cells. Fewer cells mean less oxygen is delivered throughout the body which can cause severe fatigue. 

“Luckily, although sickle cell disease is usually a lifelong condition, it can be managed with the right treatment,” Ms. Ames says. 

What causes sickle cell disease?

SCD is caused by a change, or mutation, in the gene that tells the body to make hemoglobin. This iron-rich compound found in red blood cells makes it possible for them to carry oxygen. 

To receive a diagnosis of SCD, both your mother and father must have carried one copy of the mutated sickle cell gene. When this happens, the diagnosis is sickle cell anemia, usually the most severe form of SCD.

If only one of your parents passed on a sickle cell gene, you’re diagnosed with the sickle cell trait. This trait means you carry the disease and can pass the gene on to your children, but you probably won’t have symptoms yourself.

Who gets sickle cell disease?

SCD is most often diagnosed just after birth during routine newborn blood screening tests. That said, it’s also possible to diagnose the disorder before birth by sampling the amniotic fluid. Doctors typically run this test when one or both parents have SCD or the sickle cell trait.

Although the exact number of people in the United States with SCD isn’t known, the Centers for Disease Control and Prevention (CDC) estimates that roughly 100,000 Americans have the disorder. It most commonly affects people who are Black or African American. In fact, SCD is diagnosed in one out of every 365 Black or African American births, and the sickle cell trait is diagnosed in one of every 13. 

Sickle cell disease symptoms

Symptoms of SCD typically start to show up when a child is around 6 months old. They vary from person to person and can change over time. Blocked blood flow generally causes most symptoms, including:

  • Anemia
  • Fatigue
  • Frequent infections
  • Pain crises (periodic episodes of extreme pain)
  • Swelling of the hands and feet 
  • Vision problems

Because infections can be serious for people with SCD, your doctor may prescribe penicillin long-term to help prevent diseases such as pneumonia. 

Treating sickle cell disease

Bone marrow and stem cell transplants can cure SCD, but they’re often considered too risky because of the risk of infection. In general, a doctor will only recommend a bone marrow or stem cell transplant for a child with severe SCD. The most common treatment goal is to manage symptoms like pain and prevent infections. Treatment options include:

  • Blood transfusions
  • Medicines, such as hydroxyurea, to reduce the frequency of pain crises 
  • Pain medicines

Treating SCD can also help prevent complications. Potential complications of SCD include:

  • Acute chest syndrome – a lung infection or blocked blood vessels in the lungs that can cause difficulty breathing and may require emergency medical treatment
  • Organ damage – caused by a lack of oxygen
  • Pregnancy complications – including high blood pressure, blood clots, miscarriage and premature birth
  • Pulmonary hypertension – high blood pressure in the lungs that can cause shortness of breath and fatigue
  • Stroke – caused by blocked blood flow to the brain

Living with sickle cell disease

Managing an SCD diagnosis isn’t always easy, but it is possible. In addition to treating the disorder with medicine and other therapies, it’s important to lead a healthy lifestyle. “Drink plenty of water, exercise regularly, take folic acid supplements and avoid extremely hot or extremely cold conditions,” Ms. Ames says. “All of these things can reduce your risk of a pain crisis and help your body make new red blood cells.” 

Need help finding a doctor? Schedule an appointment with one of our doctors online or call 757-534-5352 for an appointment with Ms. Ames.

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