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Sickle Cell Disease: Everything You Should Know as Parents

Learning your newborn or child has sickle cell disease (SCD) is shocking and can cause confusion, anger and fear. Like most parents, you may feel responsible or blame yourself for “giving” your child a disease. 

Such feelings are natural when a child has been diagnosed with a genetic condition, whether it’s sickle cell disease or any other inherited disease. However, learning more about SCD may help you come to terms with some of those feelings and help you feel confident about looking after your child. 

According to the Centers for Disease Control and Prevention (CDC), about 100,000 Americans are currently affected by SCD—and millions worldwide. While the disease is common, it’s often misunderstood.

With the help of Naresh Reddivalla, MD, a pediatric hematologist and oncologist at Banner Children’s Cancer and Blood Disorder Clinic in Arizona, we answer eight commonly asked questions about the disease and steps you can take to help your child live a healthy life as they grow.

What is sickle cell disease?

Sickle cell disease is a condition that affects cells in the blood called red blood cells. The red blood cells carry oxygen to organs in the body using a protein called hemoglobin.

Healthy red blood cells are round and donut shaped. They are flexible enough to fit through small blood vessels. In those with SCD, some of the red blood cells are abnormal which causes them to become hard and sticky—resembling a crescent moon or a farm tool called a “sickle.” As these sticky cells travel through small blood vessels, they can get stuck and clog blood flow. This blockage can lead to pain and other serious health complications, such as infection, acute chest syndrome, jaundice and stroke.

“Red blood cells change to a sickle shape when oxygen levels in the body are low and usually return to a normal round shape when they get more oxygen, often when passing through the lungs,” Dr. Reddivalla said. “After a while, however, these cells aren’t able to change back to their original shape and lose their ability to carry oxygen.”

Normal blood cells live for about 120 days while sickle cells live only for 20 days. Certain things can cause sickling of red blood cells and blockage of blood flow. These include infection, dehydration, sudden changes in body temperature, stress and lots of physical exertion.

What causes sickle cell disease?

SCD is an inherited genetic disease and isn’t a transmitted or contracted disease.

“There is a misconception that sickle cell disease can be transmitted by blood transfusions or is contagious,” Dr. Reddivalla said. “Both are untrue.”

You can only have SCD if you inherit one or more faulty genes from both biological parents. If you inherit a faulty gene from one parent, but not the other, you will have what is called sickle cell trait (carrier) but not sickle cell disease. If you have a faulty gene from each parent, however, you’ll have SCD.  

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. 

The most common types of SCD are:

  • HbSS: Sickle cell anemia or SS disease occurs when a child inherits an S gene from both parents. This is the most severe form of the disease.
  • HbSC: Sickle-hemoglobin C or SC disease occurs when a child inherits an S gene from one parent and a C gene from the other parent
  • HbS beta thalassemia: This disease occurs when a child inherits an S gene from one parent and a gene for beta thalassemia, another type of hemoglobin defect, from the other parent. There are two types of beta thalassemia, zero or plus. Those with zero-thalassemia usually have a severe form of SCD, while those with plus-thalassemia tend to have a milder form of SCD.

There are a few other rare types of SCD, including HbSD, HbSE and HbSO, where a child inherits one hemoglobin S gene and one gene that codes for another abnormal type of hemoglobin (D, E or O).

Who is at higher risk of having sickle cell disease?

Another misconception is that SCD happens only in black/African American ethnicity groups, which is not true. 

“Although SCD is more common in African Americans, it can also affect people of Caribbean, Middle Eastern, eastern Mediterranean, Hispanic and Asian origin.” Dr. Reddivalla said.

How is sickle cell disease diagnosed?

SCD is diagnosed with a simple blood test. In the U.S. most children with SCD are diagnosed during a newborn screening.

“Screening for sickle cell disease in newborns is mandated in all 50 states and it is performed by pricking a baby’s heel,” Dr. Reddivalla said. “This blood test also looks for various other health disorders that are not otherwise found at birth.”

If you or your partner has SCD or sickle cell trait, you can have prenatal testing to find out if your baby has SCD or sickle cell trait. To find out whether or not you or a partner is a carrier, blood tests can be done to screen.

Early diagnosis and treatment for SCD are important to help prevent infection and other health problems. 

How is sickle cell disease treated?

When it comes to treatment, your child’s health care team will consider their age, overall health and other factors when determining the best treatment.

Treatment may include:

  • Medications to reduce complications like pain:
    • Hydroxyurea is an oral medication started at the age of 9 months. It has been shown to reduce the majority of SCD complications like pain crises, acute chest syndrome, blood transfusions and hospitalizations. It can also lead to an improved quality of life and daily functioning. “Overall, the medication is very well-tolerated with minor side effects, which can be prevented with close monitoring,” Dr. Reddivalla said.
    • Crizanlizumab is FDA-approved for patients more than 16 years old who have acute pain crises that don’t respond well to hydroxyurea. This medication is given once monthly via infusion and has shown to decrease pain crises and hospitalizations.
    • L-glutamine is an approved drug that helps reduce the frequency of pain crises.
  • Vaccinations and antibiotics to prevent infections. Vaccines can protect against harmful infections like the flu, bacterial sepsis, meningitis, pneumonia and COVID-19. Medications like penicillin prophylaxis can greatly reduce the risk of infection.
  • Folic acid supplements, a B vitamin that helps make red blood cells.
  • Blood transfusions to help treat anemia and prevent stroke.

Can sickle cell disease be cured?

The only cure for sickle cell disease is hematopoietic stem cell transplant or bone marrow transplantation and gene therapy.

Bone marrow is a soft, fatty tissue inside the center of the bones, where blood cells are made. A bone marrow or stem cell transplant takes healthy cells from one person – a donor – and puts them into someone whose bone marrow isn’t working properly.

Most transplants are performed on children, and the most common reasons include:

  • The child has severe complications due to SCD, such as frequent pain episodes, acute chest syndrome, stroke or isn’t responding to hydroxyurea.
  • The child has a sibling who doesn’t have SCD and has a closely matched bone marrow.

Transplants are risky and can have some complications, but we’ve seen improved survival and better transplant outcomes when the donor is a sibling (a fully matched brother or sister),” Dr. Reddivalla said. “An unrelated donor or haploidentical donor (typically parents or half matched siblings) carry high risk for transplant-related complications but recent clinical studies are showing good outcomes with improved supportive care after bone marrow transplant.”

Gene therapy can also be used to cure sickle cell disease. This therapy edits or changes the faulty DNA in the hemoglobin genes to stop the disease by fixing the abnormal gene. To begin this therapy, doctors collect bone marrow cells from a patient with SCD and modify the cells outside the body to correct the abnormality. Then the modified cells are injected back into the patient.

Although gene therapy for SCD isn’t currently available everywhere, there’s a great deal of progress being made. “If successful, this will allow us to cure a much large number of patients than are currently being treated with bone marrow or stem cell transplantation,” Dr. Reddivalla said.

What can I do to help my child stay healthy?

There are simple steps you can take at home to help prevent and reduce the occurrence of pain crises.

  • Eat a healthy diet with lots of fruits, vegetables, whole grains and protein.
  • Drink plenty of water each day. Dehydration can increase your child’s risk for pain crisis.
  • Avoid temperature extremes. Exposure to extreme heat or cold can increase their risk of crisis.
  • Exercise regularly, but don’t overdo it. Talk to your child’s health care team about how much exercise is appropriate.
  • Get regular dental and eye exams.
  • Wash hands often and avoid those who are sick.
  • Don’t smoke and avoid secondhand and thirdhand smoke.

What is the outlook for children with sickle cell disease?

Advances in preventive care and new medicines have reduced the life-threatening problems associated with SCD. While people with SCD tend to have a shorter life expectancy than those without the condition, currently 95% of patients in the U.S. live well into adulthood.

“The survival of individuals with sickle cell anemia and prognosis has been steadily improving following the institution of comprehensive care that includes newborn screening, immunizations, antibiotics, hydroxyurea, and more rapid prevention and treatment of disease complications,” Dr. Reddivalla said. “In regions where comprehensive care is available, the disease has shifted from a fatal pediatric illness to a chronic disease often associated with gradual decline in quality-of-life and organ function.” 

Takeaway

Sickle cell disease (SCD) is the most common inherited blood disorder in the U.S. Having a child born with a critical illness like SCD can be worrisome, but there’s hope. Thanks to early interventions and treatments, children with the disorder go on to lead full and active lives.

If you have questions or concerns, talk to your child’s health care provider or locate a Banner Health specialist who can help. You can visit bannerhealth.com to find a Banner Health specialist near you.

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