Sickle Cell Disease: Getting to the Root of the Problem


Sickle Cell Disease: Getting to the Root of the Problem

Black PR Wire - Chances are you probably know someone who is or has been impacted by sickle cell disease (SCD). In fact, 1 in 13 African Americans have the sickle cell trait. While it’s considered a rare genetic disease, it’s actually the most common inherited blood disorder in the world. Every September, we recognize Sickle Cell Awareness Month in the U.S. As we mark the month this year,
we’re taking this opportunity to raise awareness about this devastating disease, elevate voices in the community to share their experience living with the disease and highlight potential treatments scientists at Vertex Pharmaceuticals have been working
on. Read on to learn more about the underlying cause of SCD and how scientists are currently investigating a potential gene-editing therapy to address this serious disease.

There are two blood disorders that are caused by inherited changes in the beta-globin (HBB) gene. The mutation leads to issues with the production of hemoglobin, the protein crucial for allowing red blood cells to carry oxygen throughout the body. Both diseases currently require a lifetime of treatment and can result in painful symptoms and reduced life expectancy. Vertex scientists are investigating the use of CRISPR/Cas9 gene-editing technology to hopefully turn on the body’s natural machinery to increase
the production of hemoglobin that can carry oxygen properly.

What is sickle cell disease (SCD) and who is most at risk?

People inherit SCD because of a “misspelling” in their DNA. This causes red blood cells to be a different shape and become stiffer and stickier, making it difficult for them to travel throughout the body. This leads to many different problems, and people living
with SCD often experience symptoms and complications including pain crises, strokes, anemia, jaundice, and symptoms of heart failure.

The sickle cell trait can actually be good thing – it evolved over time to protect people against severe malaria. Because of the way it has stayed with populations through the slave trade in the U.S. and economic migration to the Americas, people of certain nationalities have a higher likelihood of having the sickle cell trait than others, including:

People of African descent, including African Americans

Latinx Americans from Central and South America

People of Middle Eastern, Asian, Indian, and Mediterranean descent

Today, the only cure for SCD is  stem cell transplant from a matched donor and it is only available to a small fraction of people living with SCD.

Looking ahead

The cause of SCD has been known for decades — in fact, SCD is considered the first molecular disease — but many patients are still waiting for a treatment that addresses the underlying cause of
their disease. Vertex’s investigational approach uses CRISPR/Cas9 gene-editing technology to turn on the body’s natural machinery to increase the production of hemoglobin that can carry oxygen properly. They’re bringing together bestin- class research teams, technologies, and manufacturing capabilities in the hopes of bringing potentially transformative therapies to patients, like people with SCD and beta thalassemia, as quickly as possible.

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