Sickle Cell Disease: What You May Not Know

September is Sickle Cell Awareness Month, a time to raise awareness and share facts about this serious disease. Sickle cell disease affects millions of people worldwide, but many myths and misunderstandings still exist. Here are some things patients and families should know.

What is sickle cell disease?

Sickle cell disease is a genetic blood disorder, inherited through genes from one’s parents. It changes the shape of red blood cells so they become hard, sticky, and shaped like a sickle or a banana. These sickled cells can block blood flow, causing pain and organ damage.

Understanding pain episodes

Pain is one of the most common and serious symptoms of sickle cell disease. A pain episode can happen often and feel intense, even if someone does not look like they are in pain.

Sometimes, kids or teens with sickle cell disease might play on their phone or watch a movie while in pain. This is a coping method—a way to distract themselves from discomfort. That does not mean they are not hurting.

There is no blood test that shows if someone is in pain. Doctors who do not treat sickle cell often may not understand this, so patients may not be believed or treated fairly.

Triggers for pain episodes

It is a common idea that people with sickle cell disease cannot do certain things, like swim or play in the snow. The truth is that triggers for pain are different for each person. Some common triggers for pain episodes include:

• Cold or hot weather
• Hard exercise
• Emotional stress
• Dehydration

While some patients may need to avoid certain activities, others can live more active lives. Sickle cell disease triggers are not “one size fits all.”

The stigma about pain medicines

Many people with sickle cell disease go to the emergency room (ER) often for pain relief. But because of the opioid crisis, some ER doctors may think these patients are addicted or seeking drugs.

This is not true for most patients with sickle cell. They are in real pain and need proper treatment. Sadly, this misunderstanding means many patients do not get the care they deserve.

Medicines work differently for everyone

Sickle cell treatments do not work the same for every person. One patient might respond well to a medicine or therapy, while another may still have pain. Care teams often try different medicines and treatments to find the best fit.

Food and nutrition tips

A healthy diet helps support the body, especially when making new blood cells. Most patients with sickle cell disease are given folate (a type of vitamin) to help with this.

Too much iron can be harmful, especially if someone gets blood transfusions, which add iron to the body. That is why people with sickle cell disease should avoid vitamins with extra iron unless their care team says otherwise.

Learning and school challenges

Sickle cell disease does not cause learning disabilities, but it can affect school performance in other ways:

• Frequent absences from school due to pain or hospital visits
• Brain changes caused by strokes or “silent strokes” (tiny areas of damage that do not show symptoms but can affect thinking)

Some kids may also have trouble with hearing or vision, which can make learning harder. These problems are not always obvious, but can make it tough to keep up in class.

Travel and high altitudes

High altitudes have less oxygen, and that can be dangerous for people with sickle cell disease. Because their red blood cells may sickle more in lower oxygen levels, being in high places (like mountains or unpressurized airplanes) can trigger a pain episode.

Flying on regular planes is usually fine, but smaller aircraft that are not pressurized should be avoided.

Fertility and family planning

Sickle cell disease can affect the ability to have children. Some women may go through early menopause (ovarian failure), and some men and women may have reduced fertility due to damage to the reproductive organs. Doctors and researchers are still studying how this happens and how to help.

Is there a cure?

Stem cell (bone marrow) transplants offer promising cures for some people with sickle cell disease. This treatment replaces the patient’s bone marrow—the part of the body that makes blood—with healthy marrow from a donor. This helps the body make normal red blood cells instead of sickled ones. Right now, it works best for children who have a matched family donor, like a brother or sister.

Two gene therapies were approved in 2023. These are exciting steps toward a cure. Many hospitals are doing research to improve treatments and make them more available.

But “cure” means different things to different people. For some, it means no more pain or hospital visits. But that may still mean living with the effects of past organ damage. Even after gene therapy or transplant, patients still need regular checkups.

Think of it like this: If sickle cell is like a hammer hitting a wall (your body), gene therapy can take the hammer away. But it does not fix the cracks already made in the wall.

What stem cell transplants and gene therapy do and do not do

Gene therapy and stem cell transplants are exciting treatments that may improve or even cure sickle cell disease. But here is something important: They only fix blood cells—not the rest of the body.

If a patient gets one of these treatments to treat sickle cell disease, they can still pass the sickle cell gene to their children. That is because the gene is still present in other parts of their body, like the ovaries or testes. So, even after a bone marrow transplant or gene therapy, it is possible for a patient to have a child with sickle cell disease.

A bright future

The good news: Science is moving fast. Just a few years ago, there were very few treatments. Today, patients have more choices, including:

• Hydroxyurea
• New medicines
• Stem cell (bone marrow) transplants
• Gene therapy

Stay in touch with your care team and ask about new treatments. Everyone’s journey is different, and the best option depends on your needs and values.

How to help someone with sickle cell disease

If you know someone with sickle cell disease, here is how you can support them:

• Listen and believe them when they say they are in pain.
• Help them get to the clinic or hospital if needed.
• Understand that they may need to rest or take time off work or school.
• Learn about the disease and share facts with others.
• If you are an employer, be flexible and supportive with scheduling.

Families and friends can make a huge difference just by being present and kind.

Want to learn more?

Many organizations offer support and education:

• Sickle Cell Disease Association of America
• American Society of Hematology
• Global Sickle Cell Disease Network
• Local hospitals and clinics may also offer resources and support groups