Treating Sickle Cell Disease

Sickle cell Disease (SCD), also called sickle cell anemia, is an inherited red blood cell disorder in which the hemoglobin is abnormally shaped. Hemoglobin is the protein in red blood cells that carries and delivers oxygen from the lungs to the rest of the body. Normal red blood cells are round and pass easily through blood vessels.

Key takeaways:
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    Sickle cell disease (SCD) is caused by an abnormal, inherited gene that causes the hemoglobin in red blood cells to be sickle-shaped, stiff, and sticky.
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    SCD can make it difficult to supply oxygen to the rest of the body.
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    SCD affects approximately 100,000 Americans.
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    Treatment focuses on preventing and treating pain crises and complications.
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    Children with SCD need lifesaving transcranial Doppler screening, SCD medication, and regular healthcare checkups.
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    Getting the right healthcare and living a healthy lifestyle is vital to decreasing pain crises and complications.

However, with SCD, some of the hemoglobin is sickle-shaped (looks like a C or crescent moon), stiff, and sticky. These sickle-shaped cells do not pass easily through blood vessels. This makes it difficult to supply oxygen to the rest of the body. In addition, sickle cells can clog blood vessels or break apart, causing the cell to die early. Normal red blood cells live for 120 days. Sickle cells only live for 10-20 days, causing a constant shortage of red blood cells. Treatment can help prevent complications and relieve pain caused by SCD.

What causes SCD?

SCD is caused by abnormal, inherited genes — one from each parent — that causes the hemoglobin in red blood cells to be sickle-shaped, stiff, and sticky. This causes the cells to die early.

A person is born with SCD only if they inherit the sickle cell genes — also called sickle cell traits — from both parents.

A person who inherits only one sickle cell gene from one parent and a normal hemoglobin gene from the other parent will not have SCD — but they will still carry the sickle cell trait. A person who carries the sickle cell trait increases their risk of having a child with SCD if they have a child with another carrier. Two carriers of sickle cell trait have a 25% chance of having a child with SCD and a 50% chance of having a child with sickle cell trait.

According to the Cleveland Clinic, the sickle cell trait and SCD occur most often in certain ethnic groups, including African Americans, Hispanics, South Asians, Southern European Caucasians, and Middle Easterners.

In the U.S., 1 in 350-400 African American babies are born with SCD. Getting diagnosed is the first step toward managing SCD.

How is SCD diagnosed?

SCD is diagnosed with a blood test. All babies born in the U.S. are tested for SCD as part of the normal newborn screening.

If a person is unsure if they have SCD or carry the sickle cell trait, their healthcare professional can test for it by performing a simple blood test.

SCD symptoms and complications can develop as early as five months of age.

What are the signs, symptoms, and complications of SCD?

Signs, symptoms, and complications of SCD vary by person but can be mild or severe. Certain people with SCD are hospitalized frequently, while others have minimal to no symptoms.

Sickle cells may cause pain and damage areas of the body. Some of the most common signs, symptoms, and complications include:

Anemia is a condition that occurs when there are not enough red blood cells to carry oxygen to the body. Symptoms include tiredness, weakness, dizziness, or shortness of breath.

Pain, or a pain crisis, from SCD, occurs when the sickle-shaped cells block blood vessels. This may cause pain that lasts from a few hours to several days. A stay in the hospital may be required to manage a pain crisis.

Swelling in the hands and feet or joint inflammation as a result of blocked blood vessels.

Frequent infections may be needed because sickle cells can damage the spleen. Part of the spleen’s job is to defend the body from infection.

Priapism is a painful obstruction by sickle cells in the penis, which can result in impotence if not treated.

Fever may be the first sign of infection or other SCD complications. See a healthcare provider for a fever over 101.5 degrees Fahrenheit (38.5 Celsius), as sometimes, especially in infants and children, fever may be the only sign of an infection.

Organ damage from SCD due to lack of oxygen and red blood cells. SCD may cause damage to the heart, lungs, liver, kidneys, and spleen.

A stroke may occur when sickle cells block blood flow to the brain. A stroke is a life-threatening emergency. Signs of a stroke may include seizures, weakness or numbness of the arms and legs, sudden speech difficulties, or loss of consciousness. In the event of any stroke-like symptoms, call 911 or seek emergency medical treatment.

Acute chest syndrome is caused by sickle cells in the chest if they block oxygen flow in the tiny veins in the lungs. Acute chest syndrome may be life-threatening and should be treated in the hospital. Signs of acute chest syndrome resemble pneumonia and include shortness of breath, a strong cough, fever, and chest pain. Acute chest syndrome may follow body stress caused by infection, dehydration, or fever.

Early diagnosis and treatment of SCD can reduce the risk of complications.

What are the treatments for SCD?

Treatment of SCD is vital to reducing or avoiding pain, relieving symptoms, and preventing complications. Treatments include:

Pain medications — to treat sickle cell pain crisis.

Vaccinations and Antibiotics — to prevent infections.

A healthcare professional may also prescribe:

Hydroxyurea — taken daily to reduce the frequency of pain crises and may reduce the need for blood transfusions.

L-glutamine powder — approved by the FDA for treating SCD. It may reduce the frequency of pain crises.

Crizanlizumab — is an injectable medication that can reduce the frequency of pain crises. Prescriptions are available for adults and children over 16 years of age.

Voxelotor — a medication that can lower the risk of anemia and improve blood flow. It’s available for adults and children over 12 years of age.

Oxbryta — a medication that inhibits the breakdown of red blood cells. It’s safe for adults and children over the age of four.

Other treatments used to treat or cure SCD:

Blood transfusions and red blood cell exchange — are used to treat and prevent complications of SCD.

Bone marrow transplant — also known as a stem cell transplant, can cure some cases of SCD. Discuss bone marrow transplants with a healthcare professional.

NOTE
All medications and treatments have side effects and risks. Always discuss medications with your healthcare professional to weigh the benefits vs. risks. A healthcare professional can help create a plan for treating SCD.

Children need this lifesaving screening and treatment

Sickle cell anemia (SCD) is a leading cause of childhood stroke. Key findings released in a September 2022 CDC media statement show that less than half of children aged 2-9 and 38% of children aged 10-16 received transcranial Doppler (TCD) ultrasound to assess their risk for stroke. Additionally, the use of hydroxyurea — which may reduce SCD complications and improve anemia — is underutilized in children with SCD.

As quoted in the CDC media statement, CDC Acting Principal Deputy Director Debra Houry, M.D., M.P.H. said, “We must take action to ensure that children with sickle cell anemia are receiving potentially lifesaving treatment. The pain and complications these children often experience can be excruciating and debilitating and can last for hours, days, or even weeks. Preventive care and medicines, such as hydroxyurea, can help ease the pain and suffering these children go through and may extend their lives.”

Children with SCD need lifesaving TCD screening, SCD medication, and regular healthcare checkups to reduce the risk of complications and increase their quality of life.

Living with SCD

There are ways to help manage symptoms for those living with SCD. These tips can help to prevent and reduce SCD pain crisis:

Find good medical care. Often, a hematologist (a doctor who specializes in blood diseases) is the best healthcare professional to manage a complex disease like SCD.

Get regular checkups. Visit a healthcare professional regularly.

Avoid infections. Get all recommended vaccines and take all prescribed antibiotics to prevent illness.

Practice healthy habits. Drink 8-10 glasses of water daily and eat healthy food. Avoid extremes: try not to get too hot, too cold, or too tired. Exercise regularly — but rest when tired.

SCD affects approximately 100,000 Americans. Getting the right healthcare and living a healthy lifestyle is vital to decreasing pain crises and complications.

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