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What is Sickle Cell Disease? A Closer Look at the Inherited Blood Disorder

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According to the Centers for Disease Control and Prevention, approximately 100,000 Americans are currently affected by sickle cell disease.

This disease, while common, is often misunderstood. Understanding the effects of sickle cell disease and what treatment options are available can help patients to better manage their symptoms and their loved ones to better support them. Here’s what you need to know about this chronic disease.

What is Sickle Cell Disease?

“Sickle cell disease is an inherited disorder that affects the normal function of oxygen-carrying red blood cells,” explains Farzana Sayani, MD, of the Blood Disorders Program and Penn Comprehensive Sickle Cell Program.

Red blood cells are round and flexible and designed to move easily through small vessels throughout the body. However, sickle red blood cells are elongated and stiff, which causes them to interact with other blood cells and with the lining of small blood vessels which in turn causes them to block the flow of blood to all of the body’s tissues.

“This blockage of blood flow results in pain and other problems characteristic of sickle cell disease,” says Dr. Sayani.

Patients who are diagnosed with sickle cell disease will have a life-long shortage of red blood cells, known as sickle cell anemia.

Are You at Risk of Developing Sickle Cell Disease?

Chances are, if you were at risk of developing sickle cell disease, you would have already gotten it by now.

“Individuals are born with the condition, which they inherit from both of their parents. A person cannot ‘catch’ sickle cell disease from someone who has it or develop the condition later in life if they do not have it at birth,” says Dr. Sayani. 

“All 50 states in the nation screen for sickle cell disease at birth and inform parents if their newborn is affected. Individuals who know that sickle cell disease runs in the family may be eligible for pre-natal screening for the condition,” adds Penn physician James Eric Russell, MD.

Sickle cell disease is also more common in individuals that belong to the following ethnic groups:

  • African Americans
  • Latinos from Central and South America
  • Peoples of Mediterranean, South Asian and Middle Eastern descent

What are the Signs and Symptoms of Sickle Cell Disease or Sickle Cell Anemia?

“An individual who is born with sickle cell disease may not start to have symptoms until they are about six months old,” explains Dr. Russell.

While the type and severity of symptoms can vary from individual to individual, the most common symptoms of sickle cell disease include:

  • Pain in the chest, back, extremities and joints
  • Swelling of the hands and feet due to blockage of blood flow
  • Yellow skin
  • Yellow in the whites of eyes
  • Fatigue

What are Sickle Cell Disease Treatments?

While there is currently no cure for sickle cell disease, there are many effective treatment options available.

Dr. Sayani explains, “Most successful approaches to sickle cell disease involve preventive measures.”

These measures include:

  • Immunizations that protect against certain infections
  • Adequate nutrition and hydration
  • Avoidance of conditions known to trigger sickle-related pain

Additionally, there are also two medicated approved for decreasing sickle pain and reducing complications:

  • Hydroxyurea,which inhibits the hemoglobin aggregates that deform red blood cells
  • L-glutamine,which is thought to reduce the damage of hemoglobin aggregates on red blood cell function

“Some patients with sickle cell disease may also be eligible for stem-cell transplant (bone-marrow transplant), in which the parent cells that make sickled red blood cells are replaced by parent cells that make normal red blood cells,” explains Dr. Russell.

“Other patients may benefit from regular blood transfusions from donors who do not have sickle cell disease,” adds Dr. Sayani.

It is important to note that not all therapies are appropriate for all patients with sickle cell disease. Patients and their families should ask their doctors about the risks and benefits of each treatment option.

“The most common misconception about sickle cell disease is that it cannot be effectively managed,” says Dr. Sayani. “While it is true that the condition cannot be cured, advances in the understanding of the disease and prevention of its complications have transformed the lives of patients who have this disorder today and will continue to significantly improve the prospects of future generations affected by this disease.”

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