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What Is Sickle Cell Disease?
Personal Health

What Is Sickle Cell Disease?

According to the CDC, sickle cell disease (SCD) affects an estimated 100,000 people in the United States. But as sickle cell research progresses, the quality of life for those living with SCD improves as well. So, what is sickle cell disease, and how does it affect a person? Let's take a look.

What Is Sickle Cell Disease?

SCD is a class of inherited blood disorders that mainly affects people of African, Caribbean, Middle Eastern, Mediterranean, Asian Indian, Caribbean, Central American, and South American descent, says the CDC. SCD is often detected during pregnancy or at birth and affects the hemoglobin — the protein inside the red blood cells (RBC) that carry oxygen through your body — in the blood. A person with SCD has unusual hemoglobin molecules that deform the ordinarily round red blood cells into a sickle, or crescent, shape.

How Is SCD Inherited?

People with SCD inherit two copies of the mutated gene that cause a sequence of genetic changes to occur. Both parents are carriers of the gene but don't show any symptoms.

Types of SCD

The main types of SCD are based on specific inherited genes are:

  • Hemoglobin SS (Hb SS). A person with this condition inherits two sickle cell ("S") genes, one from each parent. This severe form of the disease is called sickle cell anemia.
  • Hemoglobin SC (Hb SC). A person with this condition inherits a sickle cell ("S") gene from one parent and an abnormal hemoglobin ("C") gene from the other. This is a less severe form of SCD.
  • Hemoglobin S (Hb S) Thalassemia. A person with this condition inherits a sickle cell ("S") gene from one parent and the beta thalassemia gene from the other. There are two types: Hb S beta 0-thalassemia (severe form) and Hb S beta +-thalassemia (milder form).

Health Effects

The severity of SCD may vary from minor symptoms to severe complications requiring hospitalization. The most common symptoms include:

  • Anemia. Because sickle cells don't live as long as normal RBCs — 20 days versus 120 days — people affected can experience decreased oxygen to the body tissues and chronic anemia, reports the National Institutes of Health. Anemia can make you feel tired, weak, short of breath, or dizzy.
  • Pain crisis. Sickle cells are less flexible than normal RBCs, which inhibits them from efficiently moving inside the blood vessels. This causes them to become trapped and reduces blood flow, resulting in painful extremities and tissue and organ damage, says the National Marrow Donor Program.
  • Infection. People with SCD tend to develop more infections because of their weakened immune systems and deficient lymphatic organs, according to a study in the British Journal of Haematology. Consequently, ongoing antibiotics and pain medications may be required.
  • Other issues. In early childhood, SCD can also cause delayed growth and jaundice. As a person ages, SCD can create conditions such as acute chest syndrome, strokes, and other vascular issues.

Treatments

People with SCD require ongoing care by a medical specialist who can offer treatments to help manage symptoms and decrease complications. Treatment includes:

  • Immunizations to prevent infection.
  • Medications to relieve pain, limit infections, and remedy complications.
  • Blood transfusions to treat severe anemia.
  • Drinking fluids and staying warm.

SCD is a serious condition, but with the right treatment, most people will lead happy and productive lives. In some cases, a bone marrow or stem cell transplant can cure SCD. However, these risky options are only used in cases of children with severe SCD and minimal organ damage. Speak to your doctor to learn more about prevention, diagnosis, and treatment options for SCD.

Posted in Personal Health

Christina Bhattacharya is a freelance journalist, creative writer, and content marketer living in California. She has been involved in the health and fitness field since 1999. Christina holds an A.S. in physical therapy from the Community College of the Air Force, a B.A. in technical communications from University of Maryland University College, and a M.S. in health management from Lindenwood University. She also maintains various health, fitness, and management certifications.

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*This information is for educational purposes only and does not constitute health care advice. You should always seek the advice of your doctor or physician before making health care decisions.