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Treatments Bringing New Hope to People with Sickle Cell Disease

A young mixed race family spends time together outside in Washington state, enjoying the beauty of the woods in the PNW. The dad holds his boy on his shoulders.

Treatments Bringing New Hope to People with Sickle Cell Disease

WMCHealth Provides Life-changing Care for this Painful Blood Disorder 

Sickle cell disease affects approximately 100,000 people in the U.S. Those diagnosed experience debilitating pain, and many endure frequent hospital visits. WMCHealth offers innovative treatment, haploidentical stem cell transplantation, that has proven effective in eliminating symptoms and complications. And in December 2023, the Food and Drug Administration (FDA) approved the first-ever gene-editing therapy for those with sickle cell disease, opening a new avenue of hope for a life free of pain.

Sickle Cell Disease Explained

“Sickle cell disease is an inherited blood disorder,” says Mitchell Cairo, MD. “This disorder causes normally round and flexible red blood cells to become crescent-shaped and rigid. It can cause the cells to stick to each other, blocking blood flow and preventing oxygen from getting to vital organs.”

In addition to intense pain, fatigue, and swelling, this process can lead to a shortage of red blood cells in the body, resulting in a condition called anemia. 

Over 90% of the cases in the U.S. affect Black people, and it’s estimated that 3% to 9% of people affected are of Hispanic or Latino heritage.

Sickle cell is a genetic mutation in the HBB gene. This gene is responsible for part of hemoglobin production. Those who have sickle cell disease have two mutated HBB genes, one from each parent. Those who inherit one mutated copy and one normal copy have what’s called sickle cell trait. This trait generally doesn’t have any of the debilitating symptoms that those with sickle cell disease experience. 

Innovative Stem Cell Treatments at WMCHealth

The most successful approach for the cure of sickle cell disease involves haploidentical stem cell transplantation from a family donor. WMCHealth is proud to be a pioneer of this innovative and effective treatment.

Sickle cell disease research trial was led by Dr. Cairo, Maria Fareri Children’s Hospital’s Chief of Pediatric Hematology, Oncology and Stem Cell Transplantation. Study results showed 90% subject survival and the elimination of symptoms and complications associated with sickle cell disease. The trial is one of several studies on sickle cell disease, pediatric blood disorders and cancers for which Maria Fareri Children’s Hospital serves as the lead research site.

“We are proud to be leaders in the discovery and treatments around this condition, bringing a better quality of life to people in our community,” says Dr. Cairo. “For those who suffer frequent bouts of excruciating pain and frequent hospital stays, this treatment is completely life-changing.”

Introducing CRISPR

For patients who have struggled to find a genetic match for a transplant, there is now a hopeful option on the horizon in gene-editing, called CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) therapy.

While CRISPR has been around since 2012 with the promise of helping to molecularly edit abnormal genes, the treatment has recently been FDA approved for those with sickle cell disease.

This new treatment, called CASGEVY, is similar to a transplant, but it uses the patient’s own cells instead of those of a donor match. “On a high level, the treatment happens in two phases,” says Dr. Cairo. “First, you will receive chemotherapy to wipe your system of existing bone marrow cells. Then, edited cells from a lab are given back to you through an IV. Both of these processes require hospitalization, but the results are promising.”

In a clinical trial, 29 out of 30 patients didn’t suffer a pain crisis for at least a year. 

What Are the Downsides of CRISPR?

As with any medical treatment or intervention, there are risks. The chemotherapy treatment can:

  • Increase the risk of blood cancer
  • Cause infertility
  • Raise the risk of infections

In addition, this therapy has an extremely high cost—as much as $2 million per patient. But lifetime health costs for those living with sickle cell disease who experience frequent complications and need hospitalization can also be staggeringly high. Many may feel the high cost of preventing pain for at least a year instead of reacting to it is something to consider.

“This treatment is extremely new, so more research is needed, but it’s a huge step in an exciting new direction for those with sickle cell disease,” says Dr. Cairo. “And for the doctors and researchers working tirelessly to cure other genetic disorders, this could be a first in a new line of gene therapy innovations.” 

The Childhood and Adolescent Cancer and Blood Diseases Center at Maria Fareri Children’s Hospital, is an internationally-recognized, multidisciplinary diagnostic treatment and research center that extends comprehensive care while leading breakthrough research in cancer and blood diseases. 

Learn About Maria Fareri Children's Hospital