What Are the Symptoms, Treatment and Expert Care Options for Sickle Cell Disease?

Sickle cell disease affects millions of people around the world, including many families across Louisiana. Ochsner is here to help you understand sickle cell disease, recognize its symptoms, and learn more about the treatment options available to help you live well.

What is sickle cell disease?

Sickle cell disease is an inherited blood disorder that changes the shape of red blood cells, which, when healthy, are round, flexible, and move easily through blood vessels to carry oxygen throughout the body.

With sickle cell disease, some red blood cells become hard, sticky and shaped like a crescent moon, or a "sickle." These oddly shaped cells get stuck in small blood vessels and block blood flow. They also burst and break apart faster than healthy cells, which leads to a shortage of red blood cells, leading to a condition called anemia. This can also cause significant pain.

Sickle cell disease is a lifelong condition. The good news is that today's treatment options help people manage their symptoms and enjoy full, active lives.

What are the main causes of sickle cell disease?

Sickle cell disease is caused by a genetic mutation in the HBB gene, which controls how the body makes hemoglobin.  

Sickle cell disease is congenital, which means people are born with this condition. A child must inherit two sickle cell genes, one from each parent. If a child inherits only one sickle cell gene, that child has a sickle cell trait, not the disease. Sickle cell disease is not contagious and cannot be transferred between people.

The condition is more common in people whose families come from Africa, the Mediterranean, the Middle East, India, the Caribbean and parts of Central and South America. Understanding your family history helps you and your doctor create a care plan suited to your needs, including managing your symptoms or determining if you’re a carrier for family planning.

What are the symptoms of sickle cell disease?

Sickle cell symptoms often appear in early childhood, sometimes within the first year of life. They vary from person to person and can change over time.

Common sickle cell symptoms include:

• Episodes of pain in the chest, back, arms, legs or joints
• Fatigue and weakness from anemia
• Swelling in the hands and feet
• Frequent infections
• Yellow tint in the eyes or skin, known as jaundice
• Delayed growth or puberty in children
• Vision changes

If you notice these symptoms in yourself or your child, make sure to speak with a doctor. Early diagnosis and care help long-term health.

How Is sickle cell disease diagnosed?

Sickle cell diagnosis usually starts with a simple blood test. This test checks for the abnormal hemoglobin that causes the disease.

In the United States, newborns receive routine screening for sickle cell disease shortly after birth. This early detection allows treatment to begin right away, which greatly improves outcomes.

Older children and adults can also be tested. Doctors use a blood test called hemoglobin electrophoresis to identify the type of hemoglobin in the blood. For families planning a pregnancy, genetic testing and counseling can show whether parents carry the sickle cell trait. Prenatal testing can also check whether a baby has the disease before birth.

How do you treat sickle cell disease?

Sickle cell treatment focuses on easing symptoms, preventing complications, and improving your quality of life. Your care plan depends on your symptoms, age and overall health. Ochsner offers expert, updated treatment options.  

Common sickle cell treatment options include:

• Medications: An oral medication called Hydroxyurea reduces the number of pain crises and lowers the need for blood transfusions.  
• Pain management: A care team helps you treat pain during a crisis with the right medicines and supportive care.  
• Blood transfusions: These raise the number of healthy red blood cells and lower the risk of stroke and other complications.
• Infection prevention: Vaccinations and daily antibiotics help guard against serious infections.
• Stem cell or bone marrow transplant: These transplants replace sickle cells with healthy ones. This can act as the closest treatment to a cure.
• Gene therapy: New, innovative treatments offer fresh hope and continue to advance the future of sickle cell care.

Your doctor will work with you to build a personalized plan and adjust it as your needs change.

What Is Hemoglobin SS?

Hemoglobin is the protein inside red blood cells that carries oxygen. Hemoglobin SS is the most common and often the most serious form of sickle cell disease.

People with hemoglobin SS inherit two sickle cell genes, one from each parent. Because both genes carry the sickle trait, the body makes mostly abnormal hemoglobin, which causes red blood cells to sickle more often.  

Other forms of the disease exist, such as hemoglobin SC and sickle beta-thalassemia. These happen when a person inherits one sickle cell gene along with a different abnormal gene.

What Is an acute exacerbation of sickle cell disease called?

An acute exacerbation of sickle cell disease is called a sickle cell crisis. This can also be called a pain crisis or a vaso-occlusive crisis.

A sickle cell crisis happens when sickled cells block blood flow in small vessels. This blockage stops oxygen from passing through nearby tissues and causes sudden, often severe pain. This could cause pain in the chest, back, arms, legs or joints.

Certain things can trigger a crisis, including:

• Dehydration
• Infection
• Cold weather
• High altitude
• Stress
• Too much physical strain

Knowing your triggers helps you take steps to prevent a crisis before it starts.

How long does a sickle cell crisis usually last?

A sickle cell crisis usually lasts anywhere from a few hours to several days. Most crises improve within a week with proper care.

Every person is different. Some people have mild episodes they manage at home with rest, fluids and pain medicine. Others need care at a hospital, especially when the pain is severe or lasts longer than expected. If you have a fever, trouble breathing or pain that won't stop, seek medical care right away.

What blood type carries sickle cell?

Sickle cell disease is not linked to your blood type, such as A, B, AB or O. Instead, it relates to a change in the hemoglobin gene.

The hemoglobin you inherit does matter. People who carry one sickle cell gene have a sickle cell trait, which they can pass to their children. When two parents with a sickle cell trait have a child, that child has a chance of inheriting two sickle cell genes and developing the disease.

This is one example of how genetic testing and counseling can help families plan when having children.

What does sickle cell do to a person?

Sickle cell disease affects the whole body, because blood travels everywhere. When sickled cells block blood flow and break down quickly, several problems can occur.

Over time, sickle cell disease can lead to:

• Ongoing pain episodes
• Anemia and constant tiredness
• A higher risk of infections
• Damage to organs such as the spleen, kidneys, liver and lungs
• Delayed growth in children
• Vision problems
• A higher risk of stroke

The effects range from mild to serious. With regular care from an experienced medical team, many of these complications can be prevented or managed early.

Can a patient with sickle cell disease live a normal life?

Yes, many people with sickle cell disease lead full, active and meaningful lives! Thanks to advances in medicine, life expectancy and quality of life have improved greatly over the past few decades.

Consistent, expert care including regular checkups, the right medications, healthy habits, and a strong support team makes a big difference. Staying hydrated, avoiding triggers, managing stress, and keeping up with vaccinations all help you stay healthy.  

Living with sickle cell disease takes strength, and you deserve a care team that stands beside you every step of the way. At Ochsner Health, our specialists bring expertise, compassion and the latest treatments to help you manage your condition and live your best life.

Ochsner Health also offers a sickle cell support group for patients living with this condition. Talk with your doctor to learn more.

Learn more about Laura Finn, MD, or schedule an appointment here.