Living With Sickle Cell Disease

Sickle cell disease (SCD) is an inherited blood disorder caused by a gene defect. That means it’s passed down from a parent’s genes. It causes the body to make abnormal hemoglobin (protein in red blood cells that carries oxygen to all parts of your body). When you have SCD, your body’s tissues and organs may not get enough oxygen. Here’s what happens:

Healthy red blood cells are round and move easily throughout the body. With SCD, the red blood cells are hard and sticky.
They are shaped like the letter C (and like a farm tool called a sickle).
These damaged red blood cells (sickle cells) clump together. They can’t move easily through the blood vessels.
They get stuck in small blood vessels and block blood flow like a traffic jam.
This blockage stops the movement of healthy oxygen-rich blood.
This blockage can cause pain and could damage major organs.

Sickle cells die sooner than healthy cells. SCD can affect any major organ. The liver, heart, kidneys, gallbladder, eyes, bones, and joints can all be damaged.

Who Is at Risk for Sickle Cell Disease?

Having a family history of SCD increases your risk for the disease. SCD mainly affects people whose families came from Africa, Central America, South America, the Middle East, India, the Mediterranean or Southern Europe.

One in 365 Black babies in the U.S. is born with SCD.
One in 13 Black babies in the U.S. carries the sickle cell gene.

What Are the Symptoms of Sickle Cell Disease?

The symptoms of SCD may look like other blood disorders or health problems. Always see your doctor for a diagnosis. The two most common symptoms are:

Anemia: This is when the body doesn’t have enough healthy red blood cells to carry oxygen to the body. Severe anemia can make you feel dizzy, short of breath and tired.
Pain (also called pain crisis): When sickle cells move through small blood vessels, they can get stuck. They can block blood flow and cause pain; sometimes several areas at the same time. Examples include arms, legs, back and chest. Blocked blood flow may also cause tissue damage/death.

Complications may include:

Jaundice (yellowing of the skin, eyes and mouth)
Acute chest syndrome (occurs when sickle cells stick together and block oxygen flow in the tiny vessels in the lungs). Pneumonia in patients with sickle cell disease is often “acute chest syndrome” as this shows up as changes on chest X-rays accompanied by fever and/or respiratory changes.
Splenic sequestration (spleen becomes enlarged and painful)
Stroke (when sickle cells block major blood vessels that bring oxygen to the brain)
Priapism (occurs when sickle cells block the blood vessels in the penis causing pain)

How Is Sickle Cell Disease Treated?

Early diagnosis and preventing further problems are critical in treating SCD. Treatment goals include preventing organ damage (including strokes), preventing infection and treating symptoms. Treatments may include:

Pain medicines. These help during sickle cell crises.
Drinking plenty of water daily. Doing so can prevent and treat pain crises. In some cases, IV (intravenous) fluids may be needed.
Blood transfusions. These may help treat anemia and, in some cases, prevent stroke. They are also used to dilute the sickled hemoglobin with normal hemoglobin when there are severe complications of the disease.
Red blood cell exchange. This process removes some abnormal red blood cells and replaces them with healthy red blood cells from a donor.
Vaccines and antibiotics. These can prevent infections.
Folic acid. Sickle shaped cells are more prone to breakdown which leads to anemia. Folic acid is a vitamin that can support the production of new red blood cells.
Medications. Medicine can reduce pain crises and acute chest syndrome, improve anemia and decrease the need for transfusions.
Regular eye exams. These screen for an eye condition called retinopathy.
Bone marrow transplant. A transplant can cure some people with SCD. The decision to have a transplant is based on the severity of the disease and finding a suitable donor.
Gene therapy. New gene therapies can treat SCD. Talk with your provider (or your child’s provider) about these treatments.