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New treatment options for sickle cell disease provide hope

(BPT) – Imagine constantly feeling dizzy, tired and out of breath. Imagine having episodes of pain so bad that you can’t drive or work. Imagine learning that the cause of these symptoms is that your red blood cells are shaped differently, meaning they die earlier and cause you to experience a multitude of health issues.

For Shirley Miller, this isn’t her imagination, it’s her reality. At age three she was diagnosed with sickle cell disease (SCD), a group of inherited blood disorders. For much of her life, she has managed the complications that often come with the disease. Now, she is more hopeful than ever there will be effective advanced treatments, and eventually, a cure.

Because of SCD, the body’s red blood cells, which are normally round and flexible, develop into crescent shapes and do not bend or move easily. This can block blood flow to the rest of the body and lead to serious problems, including stroke, eye issues, infections and pain crises, which is uncontrolled pain that causes distress.

More than 100,000 people in the United States and 20 million worldwide live with SCD, according to the National Heart, Lung, and Blood Institute (NHLBI). Yet until recently, treatment options have been limited. And while a blood and bone marrow transplant offers a cure, most patients with SCD are either too old to have one, or they do not have a relative who is enough of a genetic match to be a donor.

These days, though, there’s good news for people living with SCD: Research has greatly expanded, leading not only to new therapies, but offering hope for cures that can be made available to many more patients.

Traci Mondoro, Ph.D., a blood researcher at NHLBI, said her institute — part of the National Institutes of Health — is on the frontlines of this work. “We’re leading and supporting research and clinical trials to find accessible cures for SCD,” she said. But that does not mean people with the disease have to suffer in the meantime. “They can work with their health care team to determine a treatment plan to reduce symptoms and manage the condition,” Mondoro explained. “And they can also see if participating in a clinical trial is right for them.”

Miller agreed, noting that working with her doctor and attending public SCD meetings led her to an effective treatment that helped change her life. But, she noted, “I know that what helps me may not work for someone else. That’s why it’s so critical for patients to explore the different therapy options.”

Here are some common ones, including several that were recently approved by the FDA:

  • Hydroxyurea is an oral medicine that can reduce or prevent several SCD complications, such as acute chest syndrome, a need for blood transfusions and pain events.
  • Voxelotor treats SCD in adults and children age 4 and older. The oral medicine prevents red blood cells from forming the sickle shape and binding together. This may decrease the destruction of some red blood cells, lowering the risk for anemia and improving blood flow.
  • Crizanlizumab-tmca reduces the number of pain crises experienced by adults and children age 16 and older. Given through an IV, the medicine helps prevent blood cells from sticking to blood vessel walls and causing blood flow blockage, inflammation and pain crises. In addition, L-glutamine has been shown to lower the number of pain crises in people ages 5 and older. Over-the-counter pain medicine, such as acetaminophen or ibuprofen, can be used to treat mild to moderate pain, but for severe pain, providers may prescribe stronger medicines called opioids.
  • Penicillin has been shown to help children with SCD. Taking it twice a day can reduce the chance of having a severe infection in the bloodstream.
  • Transfusions can treat and prevent certain SCD complications. Acute transfusions treat complications that cause severe anemia. Red blood cell transfusions increase the number of red blood cells and provide normal red blood cells that are more flexible than red blood cells with sickle hemoglobin. Regular or ongoing blood transfusions may help lower the chances of another stroke in people who have had an acute stroke.

On the horizon: genetic therapies

Researchers at the NHLBI are exploring ways genetic therapies may help treat or even cure SCD.

“Researchers take blood or bone marrow from a patient and modify their stem cells in a laboratory using genetic therapies,” Mondoro explained. “We are hopeful that in the future, new therapies will be available to help everyone with SCD.”

For now, if you have SCD, these questions can help guide your conversation with your health care team:

  • How can I manage pain?
  • Which treatments are best for me?
  • How is this treatment administered?
  • How often do I need this treatment?
  • What are the side effects?
  • Will this treatment cure me of SCD? Are there other treatments to consider?

For more information and resources about SCD and other blood diseases and disorders, visit the NHLBI’s Blood Diseases and Disorders Education Program at https://www.nhlbi.nih.gov/blood.

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