What Is Sickle Cell Disease?


Sickle cell disease is a group of inherited disorders that affect hemoglobin, a protein in the blood that carries oxygen throughout the body. These disorders affect 100,000 people in the U.S. and 20 million worldwide. Individuals of African, Middle Eastern and Mediterranean descent have an increased risk.  

Sickle cell disease can limit blood flow and oxygen throughout the body, causing pain crises and organ damage. But new treatments are helping people with sickle cell disease enjoy a better quality of life, says Vrushali Dabak, M.D., a hematologist who heads the Sickle Cell Disease Clinic at Henry Ford Health. “New therapies and healthy lifestyle practices help reduce sickle cell disease symptoms and complications. Advances in gene therapy also offer new hope for curative treatments.” 

Sickle Cell Anemia And Other Symptoms

Sickle cell disease begins to affect red blood cell development when an infant is 10 to 12 weeks old. Red blood cells contain a protein called hemoglobin, which carries oxygen throughout your body. 

Healthy red blood cells are a round disc shape. With sickle cell disease, hemoglobin is altered, creating red blood cells shaped like a sickle or crescent. 

Symptoms vary and may change over time, but commonly include: 

  • Sickle cell anemia: Healthy red blood cells can live for up to 120 days. Sickle cells have a much shorter life, breaking down after 10 to 20 days. As a result, a person with sickle cell disease will have fewer red blood cells (anemia). Symptoms of sickle cell anemia include fatigue and irritability. 
  • Pain crises: Sickle cells are rigid and sticky, causing them to build up and block blood flow in tiny blood vessels in the abdomen, chest or joints. These blockages can cause episodes of severe pain that last for a few hours or days. Severe pain crises may require treatment in the hospital. 

Sickle cell disease also increases the risk for: 

  • Delayed growth and development
  • Frequent infections
  • Heart, lung and kidney damage
  • Stroke
  • Vision problems

How Is Sickle Cell Disease Inherited?

A child must inherit two copies of the sickle cell gene — one from each parent — to develop sickle cell disease. People born with one sickle cell gene are generally healthy but may pass the gene on to their children. 

As part of family planning, prospective parents can provide a blood sample for genetic testing to determine whether they carry the sickle cell trait. 

If both parents have the sickle cell trait, there is a:

  • 25% chance that a child will inherit both sickle cell genes and have sickle cell disease
  • 50% chance that a child will inherit one sickle cell gene and be a carrier
  • 25% chance that a child will not inherit a sickle cell gene

How Is Sickle Cell Disease Diagnosed And Treated?

Sickle cell disease is diagnosed using a blood test. Many states routinely screen all newborns for sickle cell disease and other genetic conditions. Prenatal genetic testing using a sample of the amniotic fluid surrounding a fetus can also identify sickle cell disease before birth. 

Treatment is customized based on each person’s unique needs. Dr. Dabak says that sickle cell treatment is generally designed to relieve symptoms, treat the underlying disease or provide a cure. There are a variety of treatments to relieve sickle cell disease symptoms, including:
  • Oxygen, fluids and medication to treat pain crises
  • Antibiotics to treat or prevent infections
  • Blood transfusion to increase the number of healthy red blood cells

Sickle cell disease treatment for underlying disease

“In the past, patients only received treatment when experiencing a pain crisis, increasing their reliance on pain medications like opioids,” Dr. Dabak says. “Now we can incorporate therapies to help prevent or reduce symptoms and organ damage before they occur.”  

These therapies include:

  • Folic acid: Daily doses of this vitamin help regenerate healthy red blood cells.
  • Hydroxyurea: Daily oral chemotherapy, which helps increase the amount of healthy hemoglobin in the blood.

Other newer medications that may reduce the discomfort of pain crises and the need for hospitalizations include l-glutamine, crizanlizumab and voxelotor. 

Sickle cell disease therapies for a cure

In the past, bone marrow transplant was the only potential cure for sickle cell anemia. Bone marrow transplant replaces bone marrow affected by sickle cell disease with bone marrow from a healthy donor.  

According to Dr. Dabak, it can be challenging to find a donor who is a genetic match and does not carry the sickle cell trait. Bone marrow transplant also carries risks including infections, rejections, organ damage and even death in a small percentage of patients. 

New gene therapies offer another hope for a cure. “Gene editing or gene addition are techniques that modify or add a new gene to make healthy red blood cells,” says Dr. Dabak. “This approach eliminates the need to find a donor and reduces the risk for organ damage caused by sickle cell disease.” 

Preventing Sickle Cell Disease Symptoms And Complications

If you have sickle cell anemia, it’s important to seek ongoing medical care from a specialist who can coordinate all of your medical needs. 

“We regularly collaborate with other specialists when our patients have a medical procedure or surgery. This coordinated care can prevent pain crises and reduce the risk for other complications,” says Dr. Dabak.

She encourages patients to take these additional steps to reduce the frequency and severity of pain crises and other complications:

  • Avoid situations that limit oxygen such as extreme exercise, plane travel and high altitudes.
  • Stay up-to-date with your vaccinations, including those for COVID-19 and flu, to help reduce infection risk. 
  • Stay hydrated. Keep a water bottle handy and drink fluids throughout the day to prevent dehydration

To find a hematologist at Henry Ford, visit henryford.com or call 1-800-436-7936.

Vrushali Dabak, M.D., is a hematologist and medical oncologist who heads the Sickle Cell Disease Clinic at Henry Ford Health. She sees patients at Henry Ford Health in Detroit and Henry Ford Medical Center--Columbus. 

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