Sickle Cell Disease

Sickle cell disease (SCD) is a genetic blood disorder that affects millions of people. While it is common, it’s often misunderstood.

At Banner Health, we understand the challenges of this disease. Our dedicated team offers treatments to help manage SCD and improve quality of life. Read on to learn more about SCD, its impact and how Banner Health can support you or a loved one. 

What is sickle cell disease?

Sickle cell disease (SCD) is a group of blood disorders that affect how red blood cells work. All forms of SCD cause red blood cells to become hard, sticky and shaped like a sickle or crescent moon.

Normal red blood cells are round and flexible. They carry hemoglobin (a protein that transports oxygen) to tissues throughout the body. In SCD, a change in the hemoglobin causes the blood cells to form into a sickle shape. These cells can get stuck in blood vessels, blocking blood flow and causing pain and organ damage. 

What causes sickle cell disease?

SCD is a genetic condition that usually runs in families. It is inherited in an autosomal recessive pattern. This means a person must inherit two sickle cell genes (one from each parent) to develop the disease.

If a person inherits only one sickle cell gene, they will have the sickle cell trait. People with this trait usually do not have symptoms but can pass the gene to their children.

For parents who carry a sickle cell trait, there is a 25% chance with each pregnancy of having a child with the disease. There’s also a 50% chance of having a child with sickle cell trait with no disease and a 25% chance of your child having no trait of the disease at all.

Risk factors for sickle cell disease

Certain groups of people are more likely to develop SCD:

• People of African descent, including African Americans
• People of Asian, Mediterranean, Middle Eastern or Indian descent
• Hispanic Americans of South America and Central America descent

Types of sickle cell disease

There are several types of sickle cell disease, including:

• HbSS: Sickle cell anemia or SS disease is the most common and severe form of SCD. People with this type inherit two sickle cell genes, one from each parent. Their hemoglobin is mostly abnormal (hemoglobin S).
• HbSC: Sickle hemoglobin-C disease or SC disease is a milder form, where people inherit one sickle cell gene and one gene for another abnormal hemoglobin (hemoglobin C).
• HbSB: Sickle beta thalassemia occurs when a person inherits one sickle cell gene and one beta-thalassemia gene. There are two types of HbSB: zero (HbSB0) or plus (HbSB+). People with zero-thalassemia usually have a severe form of SCD, while those with plus-thalassemia tend to have milder forms of SCD.

Other rare forms of SCD exist, including HbSD, HbSE and HbSO, in which a person inherits one sickle cell gene and one gene that codes for another abnormal type of hemoglobin (D, E or O).

Signs and symptoms of sickle cell disease

Symptoms of sickle cell disease can vary from person to person. Here are some common symptoms to watch for:

• Pain crises or sickle crises: These are sudden episodes of intense pain that can occur anywhere in the body. They happen when the sickle-shaped cells block blood flow. They can cause pain in the chest, back, arms, legs or stomach.
• Anemia: Sickle cells don’t live as long as normal red blood cells, leading to a low red blood cell count. This can cause tiredness, weakness and shortness of breath.
• Jaundice: The skin and eyes appear yellow. Because sickle cells don’t live as long, they die faster than the liver can filter them out. The yellow color is caused by bilirubin, a substance that is released when red blood cells die.
• Swelling: When sickle cells block blood flow, it can cause swelling in the hands and feet.
• Frequent infections: Sickle cells can damage the spleen, which helps fight infections. This can increase your risk for infections.
• Delayed growth: Children with SCD may grow slower than their peers due to anemia and lack of oxygen in the body.
• Vision problems: Blocked blood vessels can cause damage to the eyes and lead to vision issues. 

Complications of sickle cell disease

SCD can lead to serious health problems if not managed properly. These complications can affect many parts of the body. Some complications include:

• Acute chest syndrome: This is a severe lung-related complication and a medical emergency. It occurs when sickle cells block oxygen flow. It often happens suddenly when the body is under stress from infection, fever or dehydration. Symptoms include chest pain, fever and difficulty breathing. 
• Stroke: A stroke is another sudden problem and medical emergency. Blocked blood flow to the brain can cause a stroke. Symptoms include sudden weakness, problems with speech and confusion.
• Organ damage: Over time, SCD can damage organs like the liver, kidneys and lungs, leading to chronic health problems.
• Leg ulcers: Poor blood flow can cause painful sores on the legs that are slow to heal.
• Pulmonary hypertension: This is high blood pressure in the blood vessels of the lungs. It can cause shortness of breath and tiredness.

How is sickle cell disease diagnosed?

SCD is usually diagnosed in infancy. In the U.S., health care providers routinely screen newborns at birth.

This screening is done by pricking the baby’s heel to collect a small blood sample. This sample is tested for sickle cell disease and other conditions.

If the provider suspects the baby has SCD, they will perform a hemoglobin electrophoresis test. This test helps confirm the diagnosis by checking the types of hemoglobin in the blood.

Treatment options

While there is no universal cure for SCD, many treatment options are available. Your treatment plan will depend on your age, symptoms and general health. Early diagnosis and treatment can help prevent further problems, like organ damage. 

Treatment may include:

Pain management

Pain medicines can help reduce discomfort during pain crises. Your health care provider may recommend over-the-counter (OTC) pain relievers like ibuprofen or prescription medications for stronger pain relief. 

Blood transfusions

Regular blood transfusions can help treat anemia and prevent stroke. This involves receiving healthy red blood cells from a donor. Transfusions can help improve blood flow and reduce pain episodes.

Hydroxyurea

This medicine can help reduce the frequency of pain crises and acute chest syndrome. Hydroxyurea works by helping your body make more normal red blood cells, which can prevent sickle cell formation. Your provider will monitor you closely while on this medication.

Gene therapy

Gene therapy can be used to treat sickle cell disease by altering the genes in your cells to fix the problem that causes the disease. With this therapy, your provider takes cells from your body, fixes the genetic mutation in the lab and then puts the healthy cells back into your body. This can help you make normal red blood cells and reduce the symptoms of the disease.

Bone marrow or stem cell transplant

A hematopoietic stem cell transplant or bone marrow transplant can offer a potential cure for some people with SCD. This treatment involves replacing the unhealthy bone marrow with healthy stem cells from a donor.

Bone marrow transplants are most effective in children with severe cases. However, only a small percentage of people with SCD have a compatible donor. And there are risks and complications involved with a transplant. Your health care provider will discuss these issues with you.

Living with sickle cell disease

SCD is an ongoing (chronic) condition. Although you cannot prevent complications, you can reduce some problems. Here are some tips for managing daily life:

• Prevent infections: Get regular check-ups with your provider, as well as vaccines and antibiotics, to help protect yourself against infections. Get regular dental exams to prevent tooth decay and gum disease.
• Eat a balanced diet: Eat lots of fruits, vegetables, whole grains and lean proteins.
• Vitamins: Folic acid supplements can help your body produce red blood cells.
• Stay hydrated: Drink plenty of water to help keep blood flowing smoothly.
• Manage stress: Practice relaxation techniques and deep breathing exercises to reduce stress and anxiety.
• Exercise regularly: Engage in gentle exercise to promote overall health. Avoid strenuous activities that could trigger pain crises. 
• Educate yourself and others: Learn about SCD and share information with family and friends. Awareness can help you build a support network.
• Seek support: Join support groups or connect with others living with SCD. Sharing experiences can offer you comfort and guidance. 
• Avoid triggers: Stay away from things that may trigger a pain crisis, like higher altitudes, cold weather, alcohol and smoking.

Committed to Your Care

At Banner Health, we’re committed to compassionate care for people with sickle cell disease. Our team of experts includes hematologists, nurses and support staff dedicated to your well-being. 

Contact us today if you or someone you know is affected by sickle cell disease. Together, we can navigate the challenges of this condition and improve your quality of life.